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1. Pregnancy and infant loss: a survey of families’ experiences in Ontario Canada

Author: Jo Watson, Anne Simmonds, Michelle La Fontaine, and Megan E. Fockler
Subjects: Perinatal loss, Stigma, Miscarriage, Stillbirth, Infant death, Pregnancy loss, Gynecology and obstetrics, RG1-991
Abstract: Abstract Background Pregnancy and infant loss has a pervasive impact on families, health systems, and communities. During and after loss, compassionate, individualized, and skilled support from professionals and organizations is important, but often lacking. Historically, little has been known about how families in Ontario access existing care and supports around the time of their loss and their experiences of receiving such care. Methods An online cross-sectional survey, including both closed-ended multiple choice questions and one open-ended question, was completed by 596 people in Ontario, Canada relating to their experiences of care and support following pregnancy loss and infant death. Quantitative data were analyzed descriptively using frequency distributions. Responses to the one open-ended question were thematically analyzed using a qualitative inductive approach. Results The majority of families told us that around the time of their loss, they felt they were not adequately informed, supported and cared for by healthcare professionals, and that their healthcare provider lacked the skills needed to care for them. Almost half of respondents reported experiencing stigma from providers, exacerbating their experience of loss. Positive encounters with care providers were marked by timely, individualized, and compassionate care. Families indicated that improvements in care could be made by providing information and explanations, discharge and follow-up instructions, and through discussions about available supports. Conclusions Healthcare professionals can make a positive difference in how loss is experienced and in overall well-being by recognizing the impact of the loss, minimizing uncertainty and isolation, and by thoughtfully working within physical environments often not designed for the experience of loss. Ongoing supports are needed and should be tailored to parents’ changing needs. Prioritizing access to specialized education for professionals providing services and care to this population may help to reduce the stigma experienced by bereaved families.
Published: 2019
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2. Doenças hereditárias das purinas e pirimidinas. Estado da arte. Contribuição para o diagnóstico.

Author: Luísa Diogo, Teresa Proença, Paula Garcia, Catarina Olveira, and Anne Simmonds
Subjects: Medicine, Medicine (General), R5-920
Abstract: Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.
Published: 2004
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3. An examination of the moral habitability of resource-constrained obstetrical settings

Author: Anne Simmonds, Elizabeth Peter, Priscilla N Boakye, and Solina Richter
Subjects: Nurse Midwives, Habitability, Resource constrained, Environmental ethics, Midwifery, Morals, Issues, ethics and legal aspects, Work (electrical), Pregnancy, Moral agency, Moral distress, Humans, Female, Sociology, Workplace, Limited resources
Abstract: Background:While there have been studies exploring moral habitability and its impact on the work environments of nurses in Western countries, little is known about the moral habitability of the work environments of nurses and midwives in resource-constrained settings.Research objective:The purpose of this research was to examine the moral habitability of the work environment of nurses and midwives in Ghana and its influence on their moral agency using the philosophical works of Margaret Urban Walker.Research design and participants:A critical moral ethnography was conducted through the analysis of interviews with 30 nurses and midwives, along with observation, and documentary materials.Ethical considerations:After receiving ethics approval, signed informed consent was obtained from participants before data collection.Results:Five themes were identified: (1) holding onto the values, identities, and responsibilities of being a midwife/nurse; (2) scarcity of resources as limiting capacity to meet caring responsibilities; (3) gender and socio-economic inequities shaping the moral-social context of practice; (4) working with incoherent moral understandings and damaged identities in the context of inter- and intra-professional relationships; and (5) surviving through adversity with renewed commitment and courage.Discussion:The nurses and midwives were found to work in an environment that was morally uninhabitable and dominated by the scarcity of resources, overwhelming and incoherent moral responsibilities, oppressive conditions, and workplace violence. These situations constrained their moral agency and provoked suffering and distress. The nurses and midwives negotiated their practice and navigated through morally uninhabitable work environment by holding onto their moral values and commitments to childbearing women.Conclusion:Creating morally habitable workplaces through the provision of adequate resources and instituting interprofessional practice guidelines and workplace violence prevention policies may promote safe and ethical nursing and midwifery practice.
Published: 2021

4. Pregnancy and infant loss: a survey of families’ experiences in Ontario Canada

Author: Anne Simmonds, Jo Watson, Michelle La Fontaine, and Megan E. Fockler
Subjects: Male, Parents, Postnatal Care, medicine.medical_specialty, Perinatal care, Perinatal Death, Neonatal death, Population, Reproductive medicine, Miscarriage, lcsh:Gynecology and obstetrics, 03 medical and health sciences, 0302 clinical medicine, Nursing, Pregnancy, Pregnancy loss, Surveys and Questionnaires, Healthcare professionals, Humans, Medicine, 030212 general & internal medicine, education, Qualitative Research, lcsh:RG1-991, Multiple choice, Ontario, education.field_of_study, 030219 obstetrics & reproductive medicine, Health professionals, business.industry, Infant, Newborn, Obstetrics and Gynecology, Patient Acceptance of Health Care, Stillbirth, medicine.disease, Infant mortality, Abortion, Spontaneous, Stigma, Cross-Sectional Studies, Perinatal loss, Infant death, Female, Empathy, business, Bereavement, Research Article, Ontario canada
Abstract: Background Pregnancy and infant loss has a pervasive impact on families, health systems, and communities. During and after loss, compassionate, individualized, and skilled support from professionals and organizations is important, but often lacking. Historically, little has been known about how families in Ontario access existing care and supports around the time of their loss and their experiences of receiving such care. Methods An online cross-sectional survey, including both closed-ended multiple choice questions and one open-ended question, was completed by 596 people in Ontario, Canada relating to their experiences of care and support following pregnancy loss and infant death. Quantitative data were analyzed descriptively using frequency distributions. Responses to the one open-ended question were thematically analyzed using a qualitative inductive approach. Results The majority of families told us that around the time of their loss, they felt they were not adequately informed, supported and cared for by healthcare professionals, and that their healthcare provider lacked the skills needed to care for them. Almost half of respondents reported experiencing stigma from providers, exacerbating their experience of loss. Positive encounters with care providers were marked by timely, individualized, and compassionate care. Families indicated that improvements in care could be made by providing information and explanations, discharge and follow-up instructions, and through discussions about available supports. Conclusions Healthcare professionals can make a positive difference in how loss is experienced and in overall well-being by recognizing the impact of the loss, minimizing uncertainty and isolation, and by thoughtfully working within physical environments often not designed for the experience of loss. Ongoing supports are needed and should be tailored to parents’ changing needs. Prioritizing access to specialized education for professionals providing services and care to this population may help to reduce the stigma experienced by bereaved families.
Published: 2019

5. Pedagogical practices that influence professional identity formation in baccalaureate nursing education: A scoping review

Author: Elizabeth Peter, Alexandra Nunn, Mikaela Gray, Anne Simmonds, Samantha Mayo, Catherine Hardie, and Jessie Richards
Subjects: Medical education, 030504 nursing, MEDLINE, Identity (social science), Education, Nursing, Baccalaureate, CINAHL, PsycINFO, Professional identity formation, Nurse's Role, Education, 03 medical and health sciences, 0302 clinical medicine, Categorization, Professionalism, Humans, Learning, Students, Nursing, 030212 general & internal medicine, Curriculum, 0305 other medical science, Psychology, Identity formation, General Nursing
Abstract: Objectives The purpose of this review was to identify pedagogical practices that contribute to professional identity formation in undergraduate nursing education and to map the components of professional identity described within these practices. Design A scoping review using a five-stage methodological framework was used to capture a range of evidence describing how professional identity has been conceptualized and integrated into nursing curriculum. Data sources Databases searched included: Ovid MEDLINE: Epub Ahead of Print, In-Process & Other Non-Indexed Citations, Ovid MEDLINE® Daily and Ovid MEDLINE® 1946-Present, EBSCO CINAHL (1981 to present), OVID PsycINFO (1806 to Present), ProQuest ERIC, ASSIA, and Sociological Abstracts. Additional studies were identified by scanning the reference lists of relevant articles. Review methods The study team collaboratively designed the data charting table and two coauthors independently screened the studies using Covidence software. Qualitative content analysis was used to categorize learning outcomes into five components of professional identity that were associated with pedagogical practices identified in the studies. Results A total of 114 peer-reviewed journal articles were initially charted. Articles were categorized as intervention studies (46, 40%), perspective studies (40, 35%), theoretical papers (17, 15%), or reviews (11, 10%). To ensure feasibility in collating and reporting the results, the review focused on the 46 empirical intervention studies that described associations between pedagogical practices and professional identity formation learning outcomes for students. Conclusions This scoping review illustrates the range of contexts in which nursing students learn, the multidimensional nature of identity formation, as well as the breadth of pedagogical practices and learning outcomes that guide course design. The results can be used to inform future curriculum planning and to identify focused research questions to extend our understanding of evidence-based teaching practices supporting professional identity formation.
Published: 2020

6. Leadership, Education and Awareness: A Compassionate Care Nursing Initiative

Author: Anne Simmonds
Subjects: Nursing research, media_common.quotation_subject, education, Nurses, Compassion, General Medicine, Nurse's Role, humanities, Education, Leadership, Oncology nursing, Nova Scotia, Team nursing, Nursing, Occupational health nursing, Ethics, Nursing, Clinical Competence, Nurse education, Empathy, Education, Nursing, Psychology, Mindfulness, Primary nursing, Ethical code, media_common
Abstract: The Canadian Nurses' Association Code of Ethics (2008) and the College of Registered Nurses of Nova Scotia (CRNNS) Standards of Practice for Registered Nurses (CRNNS 2011) identify the provision of safe, compassionate, competent and ethical care as one of nursing's primary values and ethical responsibilities. While compassion has historically been viewed as the essence of nursing, there is concern that this has become an abstract ideal, rather than a true reflection of nursing practice. This paper describes a compassionate care initiative undertaken by the CRNNS and the initial outcomes of these educational workshops. This work is informed by an exploration of the multiplicity of factors that have brought this issue to the fore for nursing regulators, educators, administrators, the public as well as front-line staff. The two most significant areas of learning reported by workshop participants included understanding the connection between mindfulness, non-judgmental care and compassion/self-compassion and recognizing possibilities for action related to compassionate care, even in the face of personal and environmental constraints. Implications for nursing regulators and leaders include consideration of their roles and responsibilities in supporting nurses to meet professional practice standards, such as provision of compassionate care.
Published: 2015

7. Sustaining hope as a moral competency in the context of aggressive care

Author: Elizabeth Peter, Shan Mohammed, and Anne Simmonds
Subjects: Terminal Care, medicine.medical_specialty, False hope, Aggressive care, Nursing ethics, Feminist ethics, Social cognitive theory of morality, Hope, Issues, ethics and legal aspects, Nursing, Informed consent, Ethics, Nursing, medicine, Humans, Female, Students, Nursing, Clinical Competence, Nurse-Patient Relations, Psychology, Education, Nursing, Graduate, Competence (human resources), Qualitative Research, Qualitative research
Abstract: Background: Nurses who provide aggressive care often experience the ethical challenge of needing to preserve the hope of seriously ill patients and their families without providing false hope. Research objectives: The purpose of this inquiry was to explore nurses’ moral competence related to fostering hope in patients and their families within the context of aggressive technological care. A secondary purpose was to understand how this competence is shaped by the social–moral space of nurses’ work in order to capture how competencies may reflect an adaptation to a less than ideal work environment. Research design: A critical qualitative approach was used. Participants: Fifteen graduate nursing students from various practice areas participated. Ethical considerations: After receiving ethics approval from the university, signed informed consent was obtained from participants before they were interviewed. Findings: One overarching theme ‘Mediating the tension between providing false hope and destroying hope within biomedicine’ along with three subthemes, including ‘Reimagining hopeful possibilities’, ‘Exercising caution within the social–moral space of nursing’ and ‘Maintaining nurses’ own hope’, was identified, which represents specific aspects of this moral competency. Discussion: This competency represents a complex, nuanced and multi-layered set of skills in which nurses must be well attuned to the needs and emotions of their patients and families, have the foresight to imagine possible future hopes, be able to acknowledge death, have advanced interpersonal skills, maintain their own hope and ideally have the capacity to challenge those around them when the provision of aggressive care is a form of providing false hope. Conclusion: The articulation of moral competencies may support the development of nursing ethics curricula to prepare future nurses in a way that is sensitive to the characteristics of actual practice settings.
Published: 2014

8. RETIRED: Female Genital Cutting

Author: Liette Perron, Vyta Senikas, Margaret Burnett, Victoria Davis, Anjali Aggarwal, Jeanne Bernardin, Virginia Clark, William Fisher, Rosana Pellizzari, Viola Polomeno, Maegan Rutherford, Jeanelle Sabourin, Jodi Shapiro, Saima Akhtar, Bruno Camire, Jan Christilaw, Julie Corey, Erin Nelson, Marianne Pierce, Deborah Robertson, and Anne Simmonds
Subjects: Clitoridectomy, Canada, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Adolescent, Specialty, CINAHL, Health care, medicine, Humans, Child, Gynecology, business.industry, Obstetrics and Gynecology, Health technology, Guideline, Obstetrics, Child, Preschool, Family medicine, Circumcision, Female, Women's Health, Female, Culturally Competent Care, Infibulation, business
Abstract: Objective To strengthen the national framework for care of adolescents and women affected by female genital cutting (FGC) in Canada by providing health care professionals with: (1) information intended to strengthen their knowledge and understanding of the practice; (2) directions with regard to the legal issues related to the practice; (3) clinical guidelines for the management of obstetric and gynaecological care, including FGC related complications; and (4) guidance on the provision of culturally competent care to adolescents and women with FGC. Evidence Published literature was retrieved through searches of PubMed, CINAHL, and The Cochrane Library in September 2010 using appropriate controlled vocabulary (e.g., Circumcision, Female) and keywords (e.g., female genital mutilation, clitoridectomy, infibulation). We also searched Social Science Abstracts, Sociological Abstracts, Gender Studies Database, and ProQuest Dissertations and Theses in 2010 and 2011. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to December 2011. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).
Published: 2013

9. Understanding the Moral Nature of Intrapartum Nursing

Author: Linda McGillis Hall, Elizabeth Peter, Ellen Hodnett, and Anne Simmonds
Subjects: Canada, media_common.quotation_subject, Decision Making, Context (language use), Nursing Methodology Research, Morals, Critical Care Nursing, Pediatrics, Feminist ethics, Narrative inquiry, Family centered care, Nursing, Pregnancy, Obstetric Nursing, Maternity and Midwifery, Humans, Medicine, Childbirth, Narrative, Moral responsibility, media_common, Labor, Obstetric, Narration, business.industry, Physician-Nurse Relations, Negotiation, Female, Nurse-Patient Relations, business
Abstract: Objective To explore how intrapartum nurses understand and negotiate their moral responsibilities toward women during childbirth. Design Qualitative critical narrative. Setting Labor and birth unit in an urban Canadian hospital. Participants Fourteen intrapartum registered nurses. Methods Critical narrative analysis using a feminist ethics perspective. Results Nurses understood their moral responsibilities to laboring women in a variety of ways depending on the nurses' personal and professional experiences, the people involved, and the context of care. Four themes were identified: organizing and coordinating care, responding to the unpredictable, recognizing limits of responsibilities to others, and negotiating care with women and families. A key factor influencing responses to women was the degree to which expectations related to birth were deemed to be reasonable and mutually agreed upon among nurses, physicians, women, and their families. Although nurses were able to identify contextual influences that constrained their ability to maintain effective relationships with women, the influence of their own values on the care they provided was less apparent. Nurses also described limits of their responsibilities for others, which departed from the idealized expectations often reflected in professional guidelines Conclusion These findings suggest a need to challenge assumptions related to the provision of choice and family centered care to create environments that can support and sustain understanding and trust between nurses and women giving birth. In addition, given the lack of shared understandings of what constitutes best care, there is a need to develop collaborative models of care that include the voices of women as a central component.
Published: 2013

10. Nurses' narratives of moral identity: Making a difference and reciprocal holding

Author: Anne Simmonds, Joan Liaschenko, and Elizabeth Peter
Subjects: Typology, Attitude of Health Personnel, Identity (social science), Nurses, 0603 philosophy, ethics and religion, Morals, Feminist ethics, Feminism, Job Satisfaction, 03 medical and health sciences, Social space, Humans, Narrative, Sociology, Qualitative Research, Ontario, Narration, 030504 nursing, Gender studies, 06 humanities and the arts, Issues, ethics and legal aspects, Job satisfaction, 060301 applied ethics, 0305 other medical science, Social psychology, Qualitative research
Abstract: Background: Explicating nurses’ moral identities is important given the powerful influence moral identity has on the capacity to exercise moral agency. Research objectives: The purpose of this study was to explore how nurses narrate their moral identity through their understanding of their work. An additional purpose was to understand how these moral identities are held in the social space that nurses occupy. Research design: The Registered Nurse Journal, a bimonthly publication of the Registered Nurses’ Association of Ontario, Canada, features a regular column entitled, ‘In the End … What Nursing Means to Me …’ These short narratives generally include a story of an important moment in the careers of the authors that defined their identities as nurses. All 29 narratives published before June 2015 were analysed using a critical narrative approach, informed by the work of Margaret Urban Walker and Hilde Lindemann, to identify a typology of moral identity. Ethical considerations: Ethics approval was not required because the narratives are publicly available. Findings: Two narrative types were identified that represent the moral identities of nurses as expressed through their work: (1) making a difference in the lives of individuals and communities and (2) holding the identities of vulnerable individuals. Discussion: Nurses’ moral identities became evident when they could see improvement in the health of patients or communities or when they could maintain the identity of their patients despite the disruptive forces of illness and hospitalization. In reciprocal fashion, the responses of their patients, including expressions of gratitude, served to hold the moral identities of these nurses. Conclusion: Ultimately, the sustainability of nurses’ moral identities may be dependent on the recognition of their own needs for professional satisfaction and care in ways that go beyond the kind of acknowledgement that patients can offer.
Published: 2016

11. Ethical Decision Making in Intrapartum Nursing

Author: Anne Simmonds
Subjects: media_common.quotation_subject, Decision Making, education, Moral reasoning, Morals, Critical Care Nursing, Nurse's Role, Pediatrics, Course of action, Maternity care, Nursing, Pregnancy, Obstetric Nursing, Maternity and Midwifery, Moral distress, Humans, Medicine, Quality (business), Obstetrical nursing, Obstetric nursing, Problem Solving, media_common, business.industry, Ethical decision, Infant, Newborn, Parturition, Delivery, Obstetric, humanities, Female, Clinical Competence, Nurse-Patient Relations, business
Abstract: Nurses are confronted daily with making ethical decisions in practice, in which the "right" or best course of action must be determined. However, for intrapartum nurses, the seemingly ordinary nature of ethical issues means that these concerns may be viewed merely as clinical or logistical problems to be solved, leaving the ethical dimensions obscured. This has consequences not only for women and the provision of safe, family-centered maternity care but also for the quality of nurses' work environments and degree of moral distress experienced. This article explores ethical aspects of intrapartum nursing by applying ethical principles and moral reasoning to an "everyday" situation encountered by intrapartum nurses in practice. Implications for practice and the development of healthy moral communities are considered.
Published: 2012

12. A population study of Lesch-Nyhan disease in the UK

Author: Elizabeth Green, Terry Pountney, H. Anne Simmonds, Lynette D. Fairbanks, Gillian McCarthy, Elizabeth Bryant, and Oluwafemi Ogunbona
Subjects: Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), MEDLINE, Disease, Paediatric neurologist, Developmental Neuroscience, Lesch-Nyhan Disease, Pediatrics, Perinatology and Child Health, medicine, Population study, Neurology (clinical), Family history, Young adult, business
Abstract: Aim The aims of this study were to identify all people with Lesch–Nyhan disease (LND) born in the UK between 1988 and 2008, and to obtain a clinical profile including age at diagnosis, genetic background, family history, neurological signs, and medications. Method Potential participants were contacted through the British Paediatric Neurology Surveillance Unit. Questionnaires were sent to each child’s paediatric neurologist or primary consultant. Two purine laboratories provided metabolic information. Results Twenty-three live males with LND in the 0- to 20-year age band and eight live males over the age of 20 years were identified. Thirty-one live people with LND were identified in the UK in 2008, giving a prevalence of 1 in 2 million people. Over the 20 years of study, there was a mean incidence rate of 0.18 per 100 000 live births, range 0 to 0.5. Interpretation To our knowledge, this study is the first to provide details of the prevalence and incidence of LND in the UK. The data highlight that clinical profiles, at the time of diagnosis, and management of the disease are variable. There is the need for ongoing monitoring of allopurinol dosage and metabolic screening.
Published: 2010

13. A Novel Nucleotide Found in Human Erythrocytes, 4-Pyridone-3-carboxamide-1-β-d-ribonucleoside Triphosphate

Author: Ewa Wieczerzak, Magdi H. Yacoub, Anthony M. Marinaki, Ryszard T. Smolenski, Pawel Sowinski, E. A. Carrey, Henryk Foks, Czesława Orlewska, H. Anne Simmonds, and Ewa M. Slominska
Subjects: Niacinamide, Erythrocytes, Biochemistry, Excretion, chemistry.chemical_compound, Adenosine Triphosphate, medicine, Humans, Nucleotide, Adenosine Kinase, Nuclear Magnetic Resonance, Biomolecular, Molecular Biology, Chromatography, High Pressure Liquid, Uremia, chemistry.chemical_classification, Creatinine, Kidney, Molecular Structure, Nicotinamide, Nucleotides, Spectrum Analysis, Nucleosides, Cell Biology, Metabolism, Ribonucleoside, Kinetics, medicine.anatomical_structure, chemistry, Case-Control Studies, Kidney Failure, Chronic, Nucleoside
Abstract: We report the identification of a hitherto unknown nucleotide that is present in micromolar concentrations in the erythrocytes of healthy subjects and accumulates at levels comparable with the ATP concentration in erythrocytes of patients with chronic renal failure. The unknown nucleotide was isolated and identified by liquid chromatography with UV and tandem mass detection, (1)H nuclear magnetic resonance and infrared spectroscopy as 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate (4PYTP), a structure indicating association with metabolism of the oxidized nicotinamide compounds. Subsequently, we demonstrated formation of 4PYTP in intact human erythrocytes during incubation with the chemically synthesized nucleoside precursor 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside (4PYR). We noted preferential accumulation of monophosphate of 4PYR (4PYMP) over 4PYTP as well as a decrease in erythrocyte ATP concentration during incubation with 4PYR. Both the 4PYR phosphorylation and ATP depletion were blocked by an inhibitor of adenosine kinase. Plasma concentration of 4PYR was detectable but very low (0.013 +/- 0.006 microm) in contrast with the high daily urine excretion of this compound (26.7 +/- 18.2 micromol/24 h) in healthy subjects, indicating much greater renal clearance than other nicotinamide metabolites, nucleosides, or creatinine. We also noted a 40-fold increase in 4PYR plasma concentration in patients with chronic renal failure (0.563 +/- 0.321 microm). We suggest that 4PYTP formation in the erythrocytes is a hitherto unknown process aimed at sequestering potentially toxic 4PYR in a form that could be safely transported and subsequently released and excreted during passage of erythrocytes through the kidney.
Published: 2006

14. Archivée: Excision génitale féminine

Author: Liette Perron, Vyta Senikas, Margaret Burnett, Victoria Davis, Anjali Aggarwal, Jeanne Bernardin, Virginia Clark, William Fisher, Rosana Pellizzari, Viola Polomeno, Maegan Rutherford, Jeanelle Sabourin, Jodi Shapiro, Saima Akhtar, Bruno Camire, Jan Christilaw, Julie Corey, Erin Nelson, Marianne Pierce, Deborah Robertson, and Anne Simmonds
Subjects: Obstetrics and Gynecology
Published: 2013

15. Nursing Ethics in Everyday Practice

Author: Anne Simmonds
Subjects: Health (social science), Health Policy
Published: 2013

16. Mycophenolate mofetil treatment following renal transplantation decreases GTP concentrations in mononuclear leucocytes

Author: Piotr Jagodziński, Sławomir Lizakowski, Ewa M. Slominska, David Goldsmith, Ryszard T. Smolenski, Bolesław Rutkowski, and H. Anne Simmonds
Subjects: Adult, Male, Purine, medicine.medical_specialty, Adolescent, GTP', Azathioprine, Pharmacology, Mycophenolate, Drug Administration Schedule, chemistry.chemical_compound, IMP Dehydrogenase, Adenine nucleotide, IMP dehydrogenase, Humans, Medicine, Postoperative Period, Enzyme Inhibitors, Child, Purine Nucleotides, Aged, Kidney, business.industry, General Medicine, Middle Aged, Mycophenolic Acid, Kidney Transplantation, Surgery, Transplantation, medicine.anatomical_structure, chemistry, Leukocytes, Mononuclear, Kidney Failure, Chronic, Female, Pyrimidine Nucleotides, Guanosine Triphosphate, business, Immunosuppressive Agents, medicine.drug
Abstract: MMF (mycophenolate mofetil) has been proven to provide an effective immunosuppression by non-competitive selective reversible inhibition of IMPDH (inosine monophosphate dehydrogenase), the enzyme playing a crucial role in GTP biosynthesis. However, the exact metabolic changes induced by inhibition of IMPDH in target cells of the immune system have been the subject of recent debate. The aim of the present study was to evaluate whether MMF treatment produced sustained changes in the guanosine nucleotide pool of MNLs (mononuclear leucocytes) in vivo. Sixty-two renal failure patients were divided into three groups: chronic renal failure patients undergoing haemodialysis (CRF-HD; n=20) and two groups of patients after renal transplantation, the first on AZA (azathioprine; TN-AZA; n=23) and the second treated with MMF (TN-MMF; n=19). In addition, MNLs from 25 healthy subjects were analysed as controls. Anion-exchange HPLC was used to quantify purine and pyrimidine nucleotides in MNLs. We report a significant decrease in GTP and the total MNL guanine nucleotide pool in the TN-MMF group (P
Published: 2004

17. Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure

Author: Anthony M. Marinaki, Arian Laurence, David Goldsmith, John A. Duley, Ryszard T. Smolenski, Limin Zhu, Elizabeth A. Carrey, H. Anne Simmonds, and S. M. Edbury
Subjects: Niacinamide, medicine.medical_specialty, Erythrocytes, medicine.medical_treatment, Clinical Biochemistry, Renal function, urologic and male genital diseases, Biochemistry, chemistry.chemical_compound, Internal medicine, medicine, Humans, Nucleotide, Renal Insufficiency, Chromatography, High Pressure Liquid, Dialysis, Kidney transplantation, chemistry.chemical_classification, Nucleotides, Biochemistry (medical), Case-control study, General Medicine, medicine.disease, Kidney Transplantation, Red blood cell, medicine.anatomical_structure, Endocrinology, chemistry, Creatinine, Molybdenum cofactor, Kidney disease
Abstract: Our aim was to identify an unusual nucleotide accumulating, with precursors, in erythrocytes in uraemia and to establish its relationship to the candidate uraemic toxin, N1-methyl-2-pyridone-5-carboxamide (M2Py).This nucleotide, plasma creatinine and M2Py were measured in four categories of patients: mild chronic renal failure (CRF), end-stage renal failure (ESRF), haemodialysis (HD) and continuous ambulatory peritoneal dialysis (CAPD); also in healthy controls and patients after successful kidney transplantation (Post-Tx).The nucleotide was identified using liquid chromatography and mass spectrometry as 2-pyridone-5-carboxamide ribonucleoside triphosphate (2PyTP). In the patient groups, mean 2PyTP concentrations are lowest in CRF (21.8 micromol/l), increasing with degree of renal failure through ESRF (55.1 micromol/l) and HD patients (70.9 micromol/l) and being highest in CAPD patients (216.7 micromol/l). Following successful transplantation, 2PyTP concentrations fall to the control range. Plasma concentrations of M2Py correlate with 2PyTP in the erythrocytes; both are undetectable in patients lacking molybdenum cofactor, needed to oxidise N-methylnicotinamide.Our evidence indicates that M2Py accumulates in parallel with the nucleotide 2PyTP in renal failure: either may be a uraemic toxin, since both increase with the degree of renal failure. Elevated concentrations of 2PyTP in CAPD patients reflect a longer half-life for erythrocytes than in HD patients.
Published: 2003

18. [Untitled]

Author: Bolesław Rutkowski, Ryszard T. Smolenski, Neil Leaver, Ewa M. Slominska, H. Anne Simmonds, Marek Szolkiewicz, and Julian Swierczynski
Subjects: Nicotinamide, Catabolism, DNA repair, Chemistry, DNA damage, medicine.medical_treatment, Poly ADP ribose polymerase, Clinical Biochemistry, Cell Biology, General Medicine, Pharmacology, chemistry.chemical_compound, Biochemistry, Apoptosis, medicine, Hemodialysis, NAD+ kinase, Molecular Biology
Abstract: Intracellular catabolism of NAD in mammalian cells occurs mainly via reaction catalyzed by poly(ADP-ribose) polymerase (PARP) with the release of nicotinamide, which is then metabolized predominantly to N-methyl-2-pyridone-5-carboxamide (2PY). PARP could be activated by binding to broken DNA and is known to be involved in DNA repair mechanisms, cell stress response and regulation of apoptosis. 2PY may accumulate under disease conditions resulting in accelerated DNA damage and retention of catabolic products. Our hypothesis was that chronic renal failure would lead to elevation of 2PY and potentially to inhibition of PARP and related physiological mechanisms. In the present study we: (a) compared plasma 2PY concentration in healthy subjects and in patients with chronic renal failure (CRF); (b) evaluated the relationship between plasma 2PY concentration and the severity of CRF; (c) evaluated the effect of hemodialysis treatment and kidney transplantation on 2PY concentration.
Published: 2002

19. Female genital cosmetic surgery

Author: Dorothy Shaw, Guylaine Lefebvre, Celine Bouchard, Jodi Shapiro, Jennifer Blake, Lisa Allen, Krista Cassell, Nicholas Leyland, Wendy Wolfman, Catherine Allaire, Alaa Awadalla, Carolyn Best, Sheila Dunn, Mark Heywood, Madeleine Lemyre, Violaine Marcoux, Chantal Menard, Frank Potestio, David Rittenberg, Sukhbir Singh, Saima Akhtar, Bruno Camire, Jan Christilaw, Julie Corey, Erin Nelson, Marianne Pierce, Deborah Robertson, and Anne Simmonds
Subjects: Counseling, medicine.medical_specialty, Adolescent, MEDLINE, CINAHL, Cosmetic Techniques, Cochrane Library, law.invention, Vulva, Randomized controlled trial, law, medicine, Humans, Physician's Role, Marketing of Health Services, Evidence-Based Medicine, business.industry, Obstetrics and Gynecology, Guideline, Surgery, Clinical trial, Systematic review, Vagina, Observational study, Female, business
Abstract: To provide Canadian gynaecologists with evidence-based direction for female genital cosmetic surgery in response to increasing requests for, and availability of, vaginal and vulvar surgeries that fall well outside the traditional realm of medically-indicated reconstructions.Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in 2011 and 2012 using appropriate controlled vocabulary and key words (female genital cosmetic surgery). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to May 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). Recommendations 1. The obstetrician and gynaecologist should play an important role in helping women to understand their anatomy and to respect individual variations. (III-A) 2. For women who present with requests for vaginal cosmetic procedures, a complete medical, sexual, and gynaecologic history should be obtained and the absence of any major sexual or psychological dysfunction should be ascertained. Any possibility of coercion or exploitation should be ruled out. (III-B) 3. Counselling should be a priority for women requesting female genital cosmetic surgery. Topics should include normal variation and physiological changes over the lifespan, as well as the possibility of unintended consequences of cosmetic surgery to the genital area. The lack of evidence regarding outcomes and the lack of data on the impact of subsequent changes during pregnancy or menopause should also be discussed and considered part of the informed consent process. (III-L) 4. There is little evidence to support any of the female genital cosmetic surgeries in terms of improvement to sexual satisfaction or self-image. Physicians choosing to proceed with these cosmetic procedures should not promote these surgeries for the enhancement of sexual function and advertising of female genital cosmetic surgical procedures should be avoided (III-L) 5. Physicians who see adolescents requesting female genital cosmetic surgery require additional expertise in counselling adolescents. Such procedures should not be offered until complete maturity including genital maturity, and parental consent is not required at that time. (III-L) 6. Non-medical terms, including but not restricted to vaginal rejuvenation, clitoral resurfacing, and G-spot enhancement, should be recognized as marketing terms only, with no medical origin; therefore they cannot be scientifically evaluated. (III-L).
Published: 2014

20. [Untitled]

Author: H. Anne Simmonds, Adrian E. Morelli, Thomas D. Southgate, Pedro R. Lowenstein, Maria G. Castro, Adriana T. Larregina, Lynette D. Fairbanks, and D. Bain
Subjects: Purine, cells, genetic processes, nutritional and metabolic diseases, Biology, medicine.disease, Biochemistry, Molecular biology, HAT medium, Viral vector, enzymes and coenzymes (carbohydrates), Cellular and Molecular Neuroscience, chemistry.chemical_compound, chemistry, Hypoxanthine-guanine phosphoribosyltransferase, medicine, Neurology (clinical), Lesch–Nyhan syndrome, Purine metabolism, Hypoxanthine, Hypoxanthine Phosphoribosyltransferase
Abstract: The Lesch-Nyhan syndrome is an X-linked disorder caused by a virtually complete absence of the key enzyme of purine recycling, hypoxanthine-guanine phosphoribosyltransferase (HPRT). It is characterized by uric acid overproduction and severe neurological dysfunction. No treatment is yet available for the latter symptoms. A possible long-term solution is gene therapy, and recombinant adenoviruses have been proposed as vectors for gene transfer into postmitotic neuronal cells. We have constructed an adenoviral vector expressing the human HPRT cDNA under the transcriptional control of a short human cytomegalovirus major immediate early promoter (RAd-HPRT). Here we show that infection of human 1306, HPRT-negative cells with RAd-HPRT, expressed high enough levels of HPRT enzyme activity, as to reverse their abnormal biochemical phenotype, thus enhancing hypoxanthine incorporation and restoring purine recycling, increasing GTP levels, decreasing adenine incorporation, and allowing cell survival in HAT medium in which only cells expressing high levels of HPRT can survive. Infection of murine STO cells, increased hypoxanthine incorporation and restored purine recycling, thus allowing cell survival in HAT medium, and reduced de novo purine synthesis. Although both cells were able to survive in HAT medium post infection with RAd-HPRT, some of the biochemical consequences differed. In summary, even though adenoviral vectors do not integrate into the genome of target HPRT-deficient human or murine cells, RAd-HPRT mediated enzyme replacement corrects abnormal purine metabolism, increases intracellular GTP levels, and allows cells to survive in a negative selection medium.
Published: 1999

21. Purines: Basic and Clinical Aspects

Author: T.W. Stone, Anne Simmonds, T.W. Stone, and Anne Simmonds
Subjects: Purines--Metabolism, Purines--Physiological effect, Purines--Metabolism--Disorders, Purines
Abstract: Many groups of biologically important compounds experience cycles of furious research activity and near oblivion. The purines however seem not to be falling into such a pattern. Interest seems to be continuing almost exponentially with no sign of diminution. The result is a frighteningly extensive literature and an increas ing demand for international conferences and symposia. Unfortunately meetings such as these also spawn increasingly voluminous proceedings and it becomes more and more difficult for a newcomer to the area, or a non specialist, to obtain the general introductory survey he needs. This volume therefore is not intended to be comprehensive - far from it. We have tried to be selective in the material presented and the references quoted. They should provide a quick guide and access to key works in the literature which can be expanded by library or computerised searching. We hope that our efforts will widen the appreciation of purines as biologically important substances and will herald the day when more purine related drugs than the handful currently available are used for the selective treatment of disease. We are grateful to the many authors and publishers who have given permission to reproduce figures or quote unpublished results, and to Anne Stone for her patient typing of the manuscript.
Published: 2012

22. An unusual patient with kidney stones composed of 1-methyluric acid

Author: Krzysztof Safranow, H. Anne Simmonds, P. M. Davies, Lynette D. Fairbanks, and Michael R. Bending
Subjects: Adult, Male, medicine.medical_specialty, Urology, Urinary system, Calcium oxalate, Allopurinol, Urine, Coffee, Gastroenterology, Kidney Calculi, chemistry.chemical_compound, Peritoneal Dialysis, Continuous Ambulatory, Caffeine, Internal medicine, medicine, Humans, Analgesic nephropathy, medicine.disease, Uric Acid, chemistry, Biochemistry, Kidney Failure, Chronic, Uric acid, Central Nervous System Stimulants, Kidney stones, Nephrocalcinosis, medicine.drug
Abstract: An unusual case with kidney stones composed mainly of 1-methyluric acid is described. The patient, a Caucasian male of Celtic descent, reportedly drank at least eight cups of coffee per day and had a long history of rheumatoid arthritis, gouty attacks and renal colics--the latter attributed to nephrocalcinosis and analgesic nephropathy. He was treated with allopurinol. At 54 years, a bilateral nephrolithotomy was performed. Stone samples were analysed by thermogravimetry and infrared spectroscopy and reported to be 12-25% calcium oxalate, the remainder being organic uric acid-like material. Analysis of the extracts by HPLC confirmed that the organic material contained 67% of 1-methyluric acid and 33% of uric acid. Possible mechanisms leading to the precipitation of 1-methyluric acid from urine are discussed. We conclude that the high caffeine intake resulted in extremely elevated urinary concentrations of 1-methyluric acid favouring the formation of 1-methyluric acid stones.
Published: 2006

23. Narratives of aggressive care: Knowledge, time, and responsibility

Author: Elizabeth Peter, Shan Mohammed, and Anne Simmonds
Subjects: Male, Health Knowledge, Attitudes, Practice, Psychotherapist, Aggressive care, Morals, Feminist ethics, Feminism, Nurse's Role, Conflict, Psychological, Life Support Care, Issues, ethics and legal aspects, Temporalities, Situated, Moral distress, Ethics, Nursing, Humans, Narrative, Moral responsibility, Female, Students, Nursing, Psychology, Nurse-Patient Relations, Social psychology, Education, Nursing, Graduate
Abstract: Background: While witnessing and providing aggressive care have been identified as predominant sources of moral distress, little is known about what nurses “know” to be the “right thing to do” in these situations. Research objectives: The purpose of this study was to explore what nurses’ moral knowledge is in situations of perceived overly aggressive medical care. Research design: A critical narrative approach was used. Participants: A total of 15 graduate nursing students from various practice areas participated. Findings: Four narrative types were identified, including “Wait and see: medical uncertainty,” “Deflected responsibilities to respond to dying, death, or futility,” “Divergent understandings, responsibilities, and temporalities,” and “Privileged medical understandings and responsibilities.” Discussion: The knowledge of differentially situated persons is acknowledged in dissimilar ways, the time required to determine that enough has been done is perceived differently, and how moral responsibilities are understood also varies. Conclusions: A better understanding of how social roles influence how time, knowledge, and responsibility are related to the provision of aggressive care is needed.
Published: 2013

24. Importance of Ribonucleotide Availability to Proliferating T-lymphocytes from Healthy Humans

Author: Katarzyna Ruckemann, Lynette D. Fairbanks, H. Anne Simmonds, and Margarita Bofill
Subjects: chemistry.chemical_classification, Purine, Ribonucleotide, Cell Biology, Biology, Biochemistry, De novo synthesis, chemistry.chemical_compound, chemistry, Pyrimidine metabolism, medicine, Nucleotide, Azaserine, NAD+ kinase, Purine metabolism, Molecular Biology, medicine.drug
Abstract: Sensitive high performance liquid chromatography techniques, which differentiate between purine and pyrimidine ribonucleoside and deoxyribonucleoside triphosphates, were used to quantify pools in phytohemagglutinin-stimulated T-lymphocytes (98% CD4+ and CD8+) from healthy volunteers. The importance of de novo synthesis and salvage was evaluated by incubating the cells with 14C-radiolabeled precursors (40 μM), azaserine (20 μM; a glutamine antagonist), and ribavirin (50 μM; an IMP dehydrogenase inhibitor). We confirmed that resting T-lymphocytes meet their metabolic requirements by salvage. Noteworthy observations were as follows. First, nucleotide pool expansion over 72 h is disproportionate, with that for purines (ATP and GTP) being 2-fold compared with up to 8-fold for pyridine (NAD) or pyrimidine (UTP, UDP-Glc, and CTP) pools. This supports an additional role for the latter in membrane lipid biosynthesis, protein glycosylation, and strand break repair. Second, intact de novo pathways are essential for such expansion. Azaserine not only inhibited purine synthesis (confirmed by N-formylglycinamide polyphosphate accumulation), but also reduced expansion of pyrimidine and NAD pools by 70%. Ribavirin depleted GTP pools by 40% and reduced pyrimidine pool expansion by 40% at 72 h. These findings underline the importance of pyrimidine ribonucleotide availability as well as GTP synthesis de novo to proliferating T-lymphocytes. They also demonstrate an absence of coordinate regulation between de novo purine and pyrimidine biosynthesis.
Published: 1995

25. In memoriam: Dr. Hermione Anne Simmonds

Author: Hermione Anne, Simmonds
Subjects: Purines, History, 20th Century, History, 21st Century
Published: 2010

26. Chirurgie esthétique génitale chez la femme

Author: Dorothy Shaw, Guylaine Lefebvre, Céline Bouchard, Jodi Shapiro, Jennifer Blake, Lisa Allen, Krista Cassell, Nicholas Leyland, Wendy Wolfman, Catherine Allaire, Alaa Awadalla, Carolyn Best, Sheila Dunn, Mark Heywood, Madeleine Lemyre, Violaine Marcoux, Chantal Menard, Frank Potestio, David Rittenberg, Sukhbir Singh, Saima Akhtar, Bruno Camire, Jan Christilaw, Julie Corey, Erin Nelson, Marianne Pierce, Deborah Robertson, and Anne Simmonds
Subjects: business.industry, Obstetrics and Gynecology, Medicine, business, Hymenoplasty, Humanities
Abstract: Resume Objectif Fournir aux gynecologues canadiens des directives factuelles en matiere de chirurgie esthetique genitale chez la femme, en reponse au nombre grandissant de demandes (et d'interventions) de chirurgie vaginale et vulvaire se situant bien au-dela des reconstructions traditionnellement indiquees sur le plan medical. Resultats La litterature publiee a ete recuperee par l'intermediaire de recherches menees dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en 2011 et en 2012 au moyen d'un vocabulaire controle et de mots cles appropries (« female genital cosmetic surgery »). Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Aucune restriction n'a ete appliquee en matiere de date ou de langue. Les recherches ont ete mises a jour de facon reguliere et integrees a la directive clinique jusqu'en mai 2012. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs La qualite des resultats est evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs (Tableau). Recommandations 1.Un des roles importants des obstetriciens-gynecologues devrait consister a aider les femmes a comprendre leur anatomie et a en respecter les variantes qui leur sont propres. (III-A) 2.Lorsqu'une femme demande la tenue d'interventions esthetiques vaginales, une anamnese medicale, sexuelle et gynecologique exhaustive devrait etre obtenue et l'absence de tout dysfonctionnement sexuel ou psychologique majeur devrait etre etablie. La presence possible de coercition ou d'exploitation devrait egalement etre ecartee. (III-B) 3.Le counseling devrait constituer une priorite dans le cas des femmes qui demandent la tenue d'une chirurgie esthetique genitale. Les sujets abordes dans le cadre du counseling devraient comprendre les variations normales et les modifications physiologiques qui se manifestent au cours de la vie, ainsi que la possibilite de connaitre des consequences imprevues a la suite de la tenue d'une chirurgie esthetique visant les organes genitaux. Le manque de donnees en ce qui concerne les issues de la chirurgie et les effets des modifications subsequentes attribuables a la grossesse ou a la menopause devrait egalement faire l'objet de discussions et etre considere comme faisant partie du processus de consentement eclaire. (III-L) 4.Peu de donnees soutiennent l'amelioration de la satisfaction sexuelle ou de l'image de soi qui serait attribuable aux interventions de chirurgie esthetique genitale chez la femme. Les medecins qui choisissent de proceder a de telles interventions esthetiques ne devraient pas en faire la promotion a des fins d'amelioration de la fonction sexuelle; de surcroit, le recours a la publicite pour promouvoir les interventions de chirurgie esthetique genitale chez la femme devrait etre evite. (III-L) 5.Les medecins qui recoivent des demandes de chirurgie esthetique genitale de la part d'adolescentes doivent chercher a obtenir des competences additionnelles en ce qui a trait a l'offre de services de counseling aux adolescentes. De telles interventions chirurgicales ne devraient pas etre offertes avant l'atteinte de la pleine maturite physiologique (y compris la maturite genitale); le consentement parental n'est alors pas requis. (III-L) 6.Les termes non medicaux (y compris, entre autres, le rajeunissement vaginal, le resurfacage clitoridien et l'augmentation du point G) devraient etre reconnus comme n'etant que des termes de marketing, sans aucune origine medicale; ainsi, ils ne peuvent faire l'objet d'une evaluation scientifique. (III-L)
Published: 2013

27. NK Cell Deficiency

Author: Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, Lucia K. Ma, Patrick T. S. Ma, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, and Vanna Micheli
Published: 2009

28. Nephrotic Syndrome

Author: Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, Lucia K. Ma, Patrick T. S. Ma, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, and Vanna Micheli
Published: 2009

29. Noise-induced Hearing Loss

Author: Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, Lucia K. Ma, Patrick T. S. Ma, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, and Vanna Micheli
Published: 2009

30. Nevus Sur Nevus

Author: Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, Lucia K. Ma, Patrick T. S. Ma, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, and Vanna Micheli
Published: 2009

31. Acne Vulgaris

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

32. PFO

Author: Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Reginald S. Sauve, Verena Matejas, Martin Zenker, William Lane M. Robson, Stefan Beissert, Tom Y. Woo, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Karel Geboes, Gert Van Assche, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Jouni Uitto, Qiujie Jiang, Orhan Yildiz, Uner Kayabas, Richard G. Hegele, Jean-Nicolas Tournier, Ahmet Mesrur Halefoğlu, Mary Redmond Hutson, Margaret L. Kirby, Fumito Okada, Yumiko Ando, Asami Ono, Hiromu Mori, Timothy M. Moore, Mary I. Townsley, Maria-T. Krauth, Ingrid Pabinger, Manfred Ballmann, Terence K. Trow, Vallerie V. McLaughlin, Atteyet-Alla Fetouh Yassin, Anselm Uebing, Michael A. Gatzoulis, Helena M. Gardiner, Lucia K. Ma, Patrick T. S. Ma, Lourdes Prieto, Larry Latson, Nancy R. Keller, Lynette D. Fairbanks, H. Anne Simmonds, Martina Brunner, Christos C. Zouboulis, Vincent Everts, Miep Helfrich, Peter Von Den Driesch, Roland Bitsch, Angels García-Cazorla, and Jean Marie Saudubray
Published: 2009

33. Nocturnal Enuresis

Author: Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, Lucia K. Ma, Patrick T. S. Ma, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, and Vanna Micheli
Published: 2009

34. Adrenal Insufficiency, Secondary

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

35. AIHA

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

36. PRPP Synthetase Superactivity

Author: Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Reginald S. Sauve, Verena Matejas, Martin Zenker, William Lane M. Robson, Stefan Beissert, Tom Y. Woo, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Karel Geboes, Gert Van Assche, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Jouni Uitto, Qiujie Jiang, Orhan Yildiz, Uner Kayabas, Richard G. Hegele, Jean-Nicolas Tournier, Ahmet Mesrur Halefoğlu, Mary Redmond Hutson, Margaret L. Kirby, Fumito Okada, Yumiko Ando, Asami Ono, Hiromu Mori, Timothy M. Moore, Mary I. Townsley, Maria-T. Krauth, Ingrid Pabinger, Manfred Ballmann, Terence K. Trow, Vallerie V. McLaughlin, Atteyet-Alla Fetouh Yassin, Anselm Uebing, Michael A. Gatzoulis, Helena M. Gardiner, Lucia K. Ma, Patrick T. S. Ma, Lourdes Prieto, Larry Latson, Nancy R. Keller, Lynette D. Fairbanks, H. Anne Simmonds, Martina Brunner, Christos C. Zouboulis, Vincent Everts, Miep Helfrich, Peter Von Den Driesch, Roland Bitsch, Angels García-Cazorla, and Jean Marie Saudubray
Published: 2009

37. Adenomatous Polyposis, Familial

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

38. Pyoderma Gangrenosum

Author: Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Reginald S. Sauve, Verena Matejas, Martin Zenker, William Lane M. Robson, Stefan Beissert, Tom Y. Woo, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Karel Geboes, Gert Van Assche, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Jouni Uitto, Qiujie Jiang, Orhan Yildiz, Uner Kayabas, Richard G. Hegele, Jean-Nicolas Tournier, Ahmet Mesrur Halefoğlu, Mary Redmond Hutson, Margaret L. Kirby, Fumito Okada, Yumiko Ando, Asami Ono, Hiromu Mori, Timothy M. Moore, Mary I. Townsley, Maria-T. Krauth, Ingrid Pabinger, Manfred Ballmann, Terence K. Trow, Vallerie V. McLaughlin, Atteyet-Alla Fetouh Yassin, Anselm Uebing, Michael A. Gatzoulis, Helena M. Gardiner, Lucia K. Ma, Patrick T. S. Ma, Lourdes Prieto, Larry Latson, Nancy R. Keller, Lynette D. Fairbanks, H. Anne Simmonds, Martina Brunner, Christos C. Zouboulis, Vincent Everts, Miep Helfrich, Peter Von Den Driesch, Roland Bitsch, Angels García-Cazorla, and Jean Marie Saudubray
Published: 2009

39. Poly- and Dermatomyositis

Author: Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Reginald S. Sauve, Verena Matejas, Martin Zenker, William Lane M. Robson, Stefan Beissert, Tom Y. Woo, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Karel Geboes, Gert Van Assche, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Jouni Uitto, Qiujie Jiang, Orhan Yildiz, Uner Kayabas, Richard G. Hegele, Jean-Nicolas Tournier, Ahmet Mesrur Halefoğlu, Mary Redmond Hutson, Margaret L. Kirby, Fumito Okada, Yumiko Ando, Asami Ono, Hiromu Mori, Timothy M. Moore, Mary I. Townsley, Maria-T. Krauth, Ingrid Pabinger, Manfred Ballmann, Terence K. Trow, Vallerie V. McLaughlin, Atteyet-Alla Fetouh Yassin, Anselm Uebing, Michael A. Gatzoulis, Helena M. Gardiner, Lucia K. Ma, Patrick T. S. Ma, Lourdes Prieto, Larry Latson, Nancy R. Keller, Lynette D. Fairbanks, H. Anne Simmonds, Martina Brunner, Christos C. Zouboulis, Vincent Everts, Miep Helfrich, Peter Von Den Driesch, Roland Bitsch, Angels García-Cazorla, and Jean Marie Saudubray
Published: 2009

40. Parasternal Chondrodynia

Author: Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Reginald S. Sauve, Verena Matejas, Martin Zenker, William Lane M. Robson, Stefan Beissert, Tom Y. Woo, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Karel Geboes, Gert Van Assche, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Jouni Uitto, Qiujie Jiang, Orhan Yildiz, Uner Kayabas, Richard G. Hegele, Jean-Nicolas Tournier, Ahmet Mesrur Halefoğlu, Mary Redmond Hutson, Margaret L. Kirby, Fumito Okada, Yumiko Ando, Asami Ono, Hiromu Mori, Timothy M. Moore, Mary I. Townsley, Maria-T. Krauth, Ingrid Pabinger, Manfred Ballmann, Terence K. Trow, Vallerie V. McLaughlin, Atteyet-Alla Fetouh Yassin, Anselm Uebing, Michael A. Gatzoulis, Helena M. Gardiner, Lucia K. Ma, Patrick T. S. Ma, Lourdes Prieto, Larry Latson, Nancy R. Keller, Lynette D. Fairbanks, H. Anne Simmonds, Martina Brunner, Christos C. Zouboulis, Vincent Everts, Miep Helfrich, Peter Von Den Driesch, Roland Bitsch, Angels García-Cazorla, and Jean Marie Saudubray
Published: 2009

41. X-linked Hypophosphatemic Rickets

Author: Deborah Bartholdi, Albert Schinzel, Anthony M. Marinaki, H. Anne Simmonds, Keiya Tada, Yoichi Matsubara, Mark Berneburg, and Thomas Schwarz
Published: 2009

42. Purpura Rheumatica

Author: Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Reginald S. Sauve, Verena Matejas, Martin Zenker, William Lane M. Robson, Stefan Beissert, Tom Y. Woo, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Karel Geboes, Gert Van Assche, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Jouni Uitto, Qiujie Jiang, Orhan Yildiz, Uner Kayabas, Richard G. Hegele, Jean-Nicolas Tournier, Ahmet Mesrur Halefoğlu, Mary Redmond Hutson, Margaret L. Kirby, Fumito Okada, Yumiko Ando, Asami Ono, Hiromu Mori, Timothy M. Moore, Mary I. Townsley, Maria-T. Krauth, Ingrid Pabinger, Manfred Ballmann, Terence K. Trow, Vallerie V. McLaughlin, Atteyet-Alla Fetouh Yassin, Anselm Uebing, Michael A. Gatzoulis, Helena M. Gardiner, Lucia K. Ma, Patrick T. S. Ma, Lourdes Prieto, Larry Latson, Nancy R. Keller, Lynette D. Fairbanks, H. Anne Simmonds, Martina Brunner, Christos C. Zouboulis, Vincent Everts, Miep Helfrich, Peter Von Den Driesch, Roland Bitsch, Angels García-Cazorla, and Jean Marie Saudubray
Published: 2009

43. Aldolase B Deficiency

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

44. Acid α-Glucosidase Deficiency

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

45. Autoimmune Polyendocrinopathy-Candidiasis-ectodermal Dystrophy

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

46. Undescended Testis

Author: Gudrun Rappold, John-John B. Schnog, Victor E. A. Gerdes, Yvonne G. Weber, Jose M. Serratosa, Anna-Elina Lehesjoki, Alessandra Baumer, André B. P. Kuilenburg, Albert H. Gennip, David C. Rees, Lynette D. Fairbanks, H. Anne Simmonds, Albrecht Hesse, Diana J. Zimmermann, Gerd E. Von Unruh, Bernd Hoppe, Roswitha Siener, Naim M. Maalouf, MaryAnn Cameron, Khashayar Sakhaee, Alexander K. C. Leung, Susan Kupka, Markus Pfister, Nikolaos E. Bechrakis, Henry J. Kaplan, Hui Shao, and Deming Sun
Published: 2009

47. Alopecia, Androgenetic

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

48. Anthrax Pneumonia

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

49. Usher Syndrome

Author: Gudrun Rappold, John-John B. Schnog, Victor E. A. Gerdes, Yvonne G. Weber, Jose M. Serratosa, Anna-Elina Lehesjoki, Alessandra Baumer, André B. P. Kuilenburg, Albert H. Gennip, David C. Rees, Lynette D. Fairbanks, H. Anne Simmonds, Albrecht Hesse, Diana J. Zimmermann, Gerd E. Von Unruh, Bernd Hoppe, Roswitha Siener, Naim M. Maalouf, MaryAnn Cameron, Khashayar Sakhaee, Alexander K. C. Leung, Susan Kupka, Markus Pfister, Nikolaos E. Bechrakis, Henry J. Kaplan, Hui Shao, and Deming Sun
Published: 2009

50. Arrhythmogenic Right Ventricular Cardiomyopathy

Author: Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan, Bruno Berg, and Eric Goffin
Published: 2009

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