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6. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

Author

Balwani, Manisha, Naik, Hetanshi, Overbey, Jessica R, Bonkovsky, Herbert L, Bissell, D Montgomery, Wang, Bruce, Phillips, John D, Desnick, Robert J, and Anderson, Karl E

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Liver Disease, Digestive Diseases, Rare Diseases, Hematology, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Erythropoietic protoporphyria, X -linked protoporphyria, Photosensitivity, Clinical trial, Iron, ALAS2, 5-aminolevulinate synthase 2, DSMB, Data and Safety Monitoring Board, EPP, erythropoietic protoporphyria, FECH, ferrochelatase, IRE, iron-responsive element, IRP, IRE binding proteins, QoL, Quality of Life, X-linked protoporphyria, XLP, X linked protoporphyria, ePPIX, erythrocyte protoporphyrin, Biochemistry and Cell Biology, Genetics, Clinical sciences
Abstract

The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation in these patients. We assessed the potential efficacy of oral iron therapy in decreasing erythrocyte protoporphyrin (ePPIX) levels in patients with EPP or X-linked protoporphyria (XLP) and low ferritin in an open-label, single-arm, interventional study. Sixteen patients (≥18 years) with EPP or XLP confirmed by biochemical and/or genetic testing, and serum ferritin ≤30 ng/mL were enrolled. Baseline testing included iron studies, normal hepatic function, and elevated plasma porphyrins and ePPIX levels. Oral ferrous sulfate 325 mg twice daily was administered for 12 months. The primary efficacy outcome was the relative difference in total ePPIX level between baseline and 12 months after starting treatment with iron. Secondary measures included improvement in serum ferritin, plasma porphyrins, and clinical symptoms. Thirteen patients had EPP (8 females, 5 males) and 3 had XLP (all females) and the mean age of participants was 38.8 years (SD 14.5). Ten patients completed all study visits limiting interpretation of results. In EPP patients, a transient increase in ePPIX levels was observed at 3 months in 9 of 12 (75%) patients. Iron was discontinued in 2 of these patients after meeting the protocol stopping rule of a 35% increase in ePPIX. Seven patients withdrew before study end. Ferritin levels increased on iron replacement indicating an improvement in iron status. A decrease in ePPIX was seen in both XLP patients who completed the study (relative difference of 0.67 and 0.5 respectively). No substantial changes in ePPIX were seen in EPP patients at the end of the study (n = 8; median relative difference: -0.21 (IQR: -0.44, 0.05). The most common side effects of iron treatment were gastrointestinal symptoms. Hepatic function remained normal throughout the study. Our study showed that oral iron therapy repletes iron stores and transiently increases ePPIX in some EPP patients, perhaps due to a transient increase in erythropoiesis, and may decrease ePPIX in XLP patients. Further studies are needed to better define the role of iron repletion in EPP. Trial registration: NCT02979249.

Published
2022

9. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria

Author

Dickey, Amy K, Quick, Corbin, Ducamp, Sarah, Zhu, Zhaozhong, Feng, Yen-Chen A, Naik, Hetanshi, Balwani, Manisha, Anderson, Karl E, Lin, Xihong, Phillips, John E, Rebeiz, Lina, Bonkovsky, Herbert L, McGuire, Brendan M, Wang, Bruce, Chasman, Daniel I, Smoller, Jordan W, Fleming, Mark D, and Christiani, David C

Subjects
Genetics, Clinical Research, Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Biological Specimen Banks, Europe, Ferrochelatase, Humans, Mutation, Protoporphyria, Erythropoietic, United Kingdom, erythropoietic protoporphyria, ferrochelatase, prevalence, mean corpuscular volume, anemia, Clinical Sciences, Genetics & Heredity
Abstract

PurposeErythropoietic protoporphyria (EPP), characterized by painful cutaneous photosensitivity, results from pathogenic variants in ferrochelatase (FECH). For 96% of patients, EPP results from coinheriting a rare pathogenic variant in trans of a common hypomorphic variant c.315-48T>C (minor allele frequency 0.05). The estimated prevalence of EPP derived from the number of diagnosed individuals in Europe is 0.00092%, but this may be conservative due to underdiagnosis. No study has estimated EPP prevalence using large genetic data sets.MethodsDisease-associated FECH variants were identified in the UK Biobank, a data set of 500,953 individuals including 49,960 exome sequences. EPP prevalence was then estimated. The association of FECH variants with EPP-related traits was assessed.ResultsAnalysis of pathogenic FECH variants in the UK Biobank provides evidence that EPP prevalence is 0.0059% (95% confidence interval [CI]: 0.0042-0.0076%), 1.7-3.0 times more common than previously thought in the UK. In homozygotes for the common c.315-48T>C FECH variant, there was a novel decrement in both erythrocyte mean corpuscular volume (MCV) and hemoglobin.ConclusionThe prevalence of EPP has been underestimated secondary to underdiagnosis. The common c.315-48T>C allele is associated with both MCV and hemoglobin, an association that could be important both for those with and without EPP.

Published
2021

11. Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.

Author

Naik, Hetanshi, Overbey, Jessica R, Montgomery, Guy H, Winkel, Gary, Balwani, Manisha, Anderson, Karl E, Bissell, D Montgomery, Bonkovsky, Herbert L, Phillips, John D, Wang, Bruce, McGuire, Brendan, Keel, Siobán, Levy, Cynthia, Erwin, Angelika, and Desnick, Robert J

Subjects
Humans, Porphyria, Acute Intermittent, Fatigue, Heme, Severity of Illness Index, Longitudinal Studies, Depression, Anxiety, Quality of Life, Adolescent, Adult, Aged, Middle Aged, Female, Male, Young Adult, Sleep Wake Disorders, Patient Reported Outcome Measures, PROMIS, acute intermittent porphyria, patient-reported outcomes, quality of life, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important domains.MethodsBaseline data from the Porphyrias Consortium's Longitudinal Study were obtained for 259 patients, including detailed disease and medical history data, and the following Patient-Reported Outcomes Measurement Information System (PROMIS) scales: anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles. Relationships between PROMIS scores and clinical and biochemical AIP features were explored.ResultsPROMIS scores were significantly worse than the general population across all domains, except depression. Each domain discriminated well between asymptomatic and symptomatic patients with symptomatic patients having worse scores. Many important clinical variables like symptom frequency were significantly associated with domain scores in univariate analyses, showing responsiveness of the scales, specifically pain interference and fatigue. However, most regression models only explained ~20% of the variability observed in domain scores.ConclusionPain interference and fatigue were the most responsive scales in measuring QoL in this AIP cohort. Future studies should assess whether these scales capture longitudinal disease progression and treatment response.

Published
2020

13. Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria

Author

Naik, Hetanshi, Overbey, Jessica R, Desnick, Robert J, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Phillips, John D, Wang, Bruce, Singal, Ashwani, and Balwani, Manisha

Subjects
Health Services and Systems, Health Sciences, Clinical Research, Brain Disorders, Pain Research, PROMIS, erythropoietic proto, porphyria, quality of life, Clinical sciences
Abstract

BackgroundErythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that fully capture their impact on quality of life (QoL) are lacking.MethodsAdult patients with EPP/XLP were given four validated QoL tools: the Patient Reported Outcomes Measurement Information System 57 (PROMIS-57), the Hospital Anxiety and Depression Scale (HADS), the Illness Perception Questionnaire Revised (IPQR), and an EPP-Specific tool. All patients received the PROMIS-57 while the HADS, IPQR, and EPP-Specific tools were introduced at a later date. Associations between responses and clinical phenotypes were explored.ResultsTwo hundred and two patients were included; 193 completed PROMIS-57, 104 completed IPQR, 103 completed HADS, and 107 completed the EPP-Specific tool. The IPQR showed that patients strongly believed EPP/XLP had a negative impact on their lives. Mean scores in anxiety and depression domains of both HADS and PROMIS-57 were normal; however, anxiety scores from HADS were borderline/abnormal in 20% of patients. The EPP-Specific tool revealed a decreased QoL in most patients. The PROMIS-57 showed that 21.8% of patients have clinically significant pain interference. Several tool domains correlated with measures of disease severity, most being from the PROMIS-57.ConclusionsImpaired QoL is an important consequence of EPP/XLP. PROMIS-57 was most sensitive in evaluating impaired QoL in EPP/XLP. Further research is needed to compare the effectiveness of it for assessing response to treatment.

Published
2019

17. Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort

Author

Leaf, Rebecca K., primary, Naik, Hetanshi, additional, Jiang, Paul Y., additional, Elmariah, Sarina B., additional, Hodges, Pamela, additional, Mead, Jennifer, additional, Trinidad, John, additional, Saberi, Behnam, additional, Tran, Benny, additional, Valiante, Sarah, additional, Mernick, Francesca, additional, Leaf, David E., additional, Anderson, Karl E., additional, and Dickey, Amy K., additional

Published
2024
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19. Porphyria Reply

Author

Bissell, D Montgomery, Anderson, Karl E, and Bonkovsky, Herbert L

Subjects
General & Internal Medicine, Medical and Health Sciences
Published
2017

20. Acute hepatic porphyrias: Recommendations for evaluation and long‐term management

Author

Balwani, Manisha, Wang, Bruce, Anderson, Karl E, Bloomer, Joseph R, Bissell, D Montgomery, Bonkovsky, Herbert L, Phillips, John D, Desnick, Robert J, and Network, for the Porphyrias Consortium of the Rare Diseases Clinical Research

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Neurodegenerative, Digestive Diseases, Liver Disease, Hematology, Management of diseases and conditions, 7.3 Management and decision making, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Disease Management, Humans, Porphyrias, Hepatic, Porphyrias Consortium of the Rare Diseases Clinical Research Network, Medical Biochemistry and Metabolomics, Immunology, Gastroenterology & Hepatology, Clinical sciences
Abstract

The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. These disorders present clinically with acute neurovisceral symptoms which may be sporadic or recurrent and, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic attacks (

Published
2017

21. Roles of the ABCG2 Transporter in Protoporphyrin IX Distribution and Toxicity

Author

Qi, Qian, Gu, Ruizhi, Zhu, Junjie, Anderson, Karl E., and Ma, Xiaochao

Abstract

ATP-binding cassette transporter subfamily G member 2 (ABCG2) is a membrane-bound transporter responsible for the efflux of various xenobiotics and endobiotics, including protoporphyrin IX (PPIX), an intermediate in the heme biosynthesis pathway. Certain genetic mutations and chemicals impair the conversion of PPIX to heme and/or increase PPIX production, leading to PPIX accumulation and toxicity. In mice, deficiency of ABCG2 protects against PPIX-mediated phototoxicity and hepatotoxicity by modulating PPIX distribution. In addition, in vitro studies revealed that ABCG2 inhibition increases the efficacy of PPIX-based photodynamic therapy by retaining PPIX inside target cells. In this review, we discuss the roles of ABCG2 in modulating the tissue distribution of PPIX, PPIX-mediated toxicity, and PPIX-based photodynamic therapy.

Published
2024
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23. From chemistry to genomics: A concise history of the porphyrias.

Author

Badminton, Michael N., Anderson, Karl E., Deybach, Jean‐Charles, Harper, Pauline, Sandberg, Sverre, and Elder, George H.

Subjects
*ERYTHROPOIETIC porphyria, *HEME, *HEMATOPORPHYRIN, *HEMIN, *PORPHYRIA
Abstract

We describe developments in understanding of the porphyrias associated with each step in the haem biosynthesis pathway and the role of individuals whose contributions led to major advances over the past 150 years. The first case of erythropoietic porphyria was reported in 1870, and the first with acute porphyria in 1889. Photosensitisation by porphyrin was confirmed by Meyer‐Betz, who self‐injected haematoporphyrin. Günther classified porphyrias into haematoporphyria acuta, acuta toxica, congenita and chronica. This was revised by Waldenström into porphyria congenita, acuta and cutanea tarda, with the latter describing those with late‐onset skin lesions. Waldenström was the first to recognise porphobilinogen's association with acute porphyria, although its structure was not solved until 1953. Hans Fischer was awarded the Nobel prize in 1930 for solving the structure of porphyrins and the synthesis of haemin. After 1945, research by several groups elucidated the pathway of haem biosynthesis and its negative feedback regulation by haem. By 1961, following the work of Watson, Schmid, Rimington, Goldberg, Dean, Magnus and others, aided by the availability of modern techniques of porphyrin separation, six of the porphyrias were identified and classified as erythropoietic or hepatic. The seventh, 5‐aminolaevulinate dehydratase deficiency porphyria, was described by Doss in 1979. The discovery of increased hepatic 5‐aminolaevulinate synthase activity in acute porphyria led to development of haematin as a treatment for acute attacks. By 2000, all the haem biosynthesis genes were cloned, sequenced and assigned to chromosomes and disease‐specific mutations identified in all inherited porphyrias. These advances have allowed definitive family studies and development of new treatments. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Exploring current and emerging therapies for porphyrias.

Author

Jericó, Daniel, Córdoba, Karol M., Urigo, Francesco, Enríquez de Salamanca, Rafael, Anderson, Karl E., Deybach, Jean‐Charles, Ávila, Matías A., and Fontanellas, Antonio

Subjects
RNA interference, MOLECULAR chaperones, DRUG delivery systems, DRUG repositioning, NANOSCIENCE
Abstract

Porphyrias are rare, mostly inherited disorders resulting from altered activity of specific enzymes in the haem synthesis pathway that lead to accumulation of pathway intermediates. Photocutaneous symptoms occur when excess amounts of photoreactive porphyrins circulate in the blood to the skin, whereas increases in potentially neurotoxic porphyrin precursors are associated with neurovisceral symptoms. Current therapies are suboptimal and their mechanisms are not well established. As described here, emerging therapies address underlying disease mechanisms by introducing a gene, RNA or other specific molecule with the potential to cure or slow progression of the disease. Recent progress in nanotechnology and nanoscience, particularly regarding particle design and formulation, is expanding disease targets. More secure and efficient drug delivery systems have extended our toolbox for transferring specific molecules, especially into hepatocytes, and led to proof‐of‐concept studies in animal models. Repurposing existing drugs as molecular chaperones or haem synthesis inhibitors is also promising. This review summarizes key examples of these emerging therapeutic approaches and their application for hepatic and erythropoietic porphyrias. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias

Author

Gou, Eric W, Balwani, Manisha, Bissell, D Montgomery, Bloomer, Joseph R, Bonkovsky, Herbert L, Desnick, Robert J, Naik, Hetanshi, Phillips, John D, Singal, Ashwani K, Wang, Bruce, Keel, Sioban, and Anderson, Karl E

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Hematology, Rare Diseases, Adolescent, Adult, Child, Child, Preschool, Diagnosis, Differential, Erythrocytes, Female, Fluorometry, Humans, Infant, Infant, Newborn, Lead Poisoning, Male, Porphyrias, Protoporphyria, Erythropoietic, Protoporphyrins, Reagent Kits, Diagnostic, Reference Values, Medical Biotechnology, Medical Biochemistry and Metabolomics, General Clinical Medicine, Clinical sciences, Medical biochemistry and metabolomics
Abstract

BackgroundLaboratory diagnosis of erythropoietic protoporphyria (EPP) requires a marked increase in total erythrocyte protoporphyrin (300-5000 μg/dL erythrocytes, reference interval

Published
2015

29. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Author

Chen, Brenden, Whatley, Sharon, Badminton, Michael, Aarsand, Aasne K., Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Cappellini, Maria D., Floderus, Ylva, Friesema, Edith C.H., Gouya, Laurent, Harper, Pauline, Kauppinen, Raili, Loskove, Yonina, Martásek, Pavel, Phillips, John D., Puy, Hervé, Sandberg, Sverre, Schmitt, Caroline, To-Figueras, Jordi, Weiss, Yedidyah, Yasuda, Makiko, Deybach, Jean-Charles, and Desnick, Robert J.

Published
2019
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37. Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium

Author

Bonkovsky, Herbert L, Maddukuri, Vinaya C, Yazici, Cemal, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph R, Phillips, John D, Naik, Hetanshi, Peter, Inga, Baillargeon, Gwen, Bossi, Krista, Gandolfo, Laura, Light, Carrie, Bishop, David, and Desnick, Robert J

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Mental Health, Clinical Research, Genetics, Mental Illness, Genetic Testing, 2.1 Biological and endogenous factors, Adult, Anxiety, Coproporphyria, Hereditary, Delayed Diagnosis, Depression, Epilepsy, Female, Humans, Hypertension, Incidence, Male, Middle Aged, Neuralgia, Porphyria, Acute Intermittent, Porphyria, Variegate, Renal Insufficiency, Chronic, Sex Distribution, United States, Young Adult, Acute intermittent porphyria, Clinical features, Delta-aminolevulinic acid, Hematin, Heme, Hereditary coproporphyria, Hydroxymethylbilane synthase, Porphobilinogen, Porphobilinogen deaminase, Porphyrins, Variegate porphyria, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundRecent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.MethodsBetween September 2010 and December 2012, 108 subjects with acute porphyrias (90 acute intermittent porphyrias, 9 hereditary coproporphyrias, 9 variegate porphyrias) were enrolled into an observational study. Genetic testing was performed at a central genetic testing laboratory and clinical information entered into a central database. Selected features were compared with data for adults in the US.ResultsMost subjects (88/108, 81%) were female, with self-reported onset of symptoms in the second through fourth decades of life. The most common symptom was abdominal pain. Appendectomies and cholecystectomies were common before a diagnosis of porphyria. The diagnosis was delayed by a mean of 15 years. Anxiety and depression were common, and 18% complained of chronic symptoms, especially neuropathic and other pains. The incidences of systemic arterial hypertension, chronic kidney disease, seizure disorders, and psychiatric conditions were markedly increased. Mutations of the known causative genes were found in 102/105 of those tested, with novel mutations being found in 37, including in 7/8 subjects with hereditary coproporphyria. Therapy with intravenous hematin was the most effective therapy both for treatment of acute attacks and for prevention of recurrent attacks.ConclusionsAcute porphyrias often remain undiagnosed for more than a decade after first symptoms develop. Intravenous hematin is the treatment of choice, both for treatment of acute attacks and for prevention of recurrent attacks.

Published
2014

38. List of Contributors

Author

Ali, Omar, primary, Anderson, Karl E., additional, Balwani, Manisha, additional, Berry, Gerard T., additional, Chang, Irene J., additional, Chen, Yuan-Tsong, additional, Desnick, Robert J., additional, Donohoue, Patricia A., additional, Falk, Marni J., additional, Finberg, Karin E., additional, Freeze, Hudson H., additional, Ganetzky, Rebecca D., additional, Garg, Abhimanyu, additional, Ginzburg, Yelena Z., additional, Giugliani, Roberto, additional, Hegele, Robert A., additional, Hennekam, Raoul C.M., additional, Jinnah, H.A., additional, Kaler, Stephen G., additional, Kamatani, Naoyuki, additional, Kansra, Alvina, additional, Kishnani, Priya S., additional, Lam, Christina, additional, Levine, Michael A., additional, Ng, Bobby G., additional, Sanchez Russo, Rossana L., additional, Streeten, Elizabeth A., additional, Sun, Angela, additional, van Kuilenburg, André B.P., additional, Vockley, Jerry, additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Wilcox, William R., additional, and Wolfe, Lynne A., additional

Published
2021
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42. PB2562: STUDY DESIGN OF THE AURORA TRIAL: A PHASE 2, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL OF BITOPERTIN IN ERYTHROPOIETIC PROTOPORPHYRIA

Author

Levy, Cynthia, primary, Anderson, Karl E., additional, Balwani, Manisha, additional, Bonkovsky, Herbert L., additional, Dickey, Amy, additional, Keel, Siobán, additional, Mcguire, Brendan, additional, Smith, Roy, additional, Thapar, Manish, additional, Wang, Bruce, additional, and Savage, William, additional

Published
2023
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46. Dersimelagon in Erythropoietic Protoporphyrias

Author

Balwani, Manisha, primary, Bonkovsky, Herbert L., additional, Levy, Cynthia, additional, Anderson, Karl E., additional, Bissell, D. Montgomery, additional, Parker, Charles, additional, Takahashi, Fumihiro, additional, Desnick, Robert J., additional, and Belongie, Kirstine, additional

Published
2023
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49. Contributors

Author

Abzug, Mark J., Acharya, Krishna K., Adams, Denise M., Adelson, Stewart, Adrian, Molly C., Ahlfeld, Shawn K., Aiken, John J., Akdis, Cezmi A., Albokhari, Daniah, Alderman, Elizabeth M., Ali, Omar, Allen-Rhoades, Wendy A., Almutlaq, Nourah N., Amos, Louella B., Anari, Jason B., Anderson, Karl E., Anupindi, Sudha A., Appleby, Brian S., Ardoin, Stacy P., Arkader, Alexandre, Armangué, Thaís, Arndt, Carola A.S., Arnold, Danielle E., Artis, Adrianne R., Asher, David M., Asselin, Barbara L., Astley, Christina M., Atkinson, Norrell K., Augustine, Erika F., Augustyn, Marilyn C., Bacharier, Leonard B., Bacino, Carlos A., Bailey, Zinzi D., Balamuth, Frances B., Baldassano, Robert N., Baldwin, Keith D., Bales, Christina B., Balistreri, William F., Balwani, Manisha, Bamba, Vaneeta, Banerji, Aleena, Bang, Janet Y., Barai, Nikita, Baranowski, Katherine, Barclay, Sarah F., Barkoudah, Elizabeth, Barrero-Castillero, Alejandra, Barrett, Katherine J., Barron, Karyl S., Basel, Donald, Bass, Dorsey M., Bassett, Mary T., Bassiri, Hamid, Baum, Rebecca A., Behrens, Edward M., Bell, Michael J., Benjamin, Daniel K., Jr., Bennett, Amanda E., Bergerson, Jenna R.E., Bernstein, Daniel, Bernstein, Henry H., Bice-Urbach, Brittany J., Bielory, Brett P., Bielory, Leonard, Blanchard, Samra S., Blanchette, Eliza, Blatter, Joshua A., Bleyer, Archie, Boas, Steven R., Bock, Margret E., Boggs, Sarah R., Boivin, Michael J., Bonn, Julie, Bonthius, Daniel J., Boppana, Suresh B., Bordini, Brett J., Borst, Alexandra J., Bosse, Kristopher R., Boyer, Kenneth M., Brady, Patrick W., Brady, Rebecca C., Brady, Samuel L., Branchford, Brian R., Brandow, Amanda M., Brandsma, Erik, Breault, David T., Breuner, Cora Collette, Bridgemohan, Carolyn F., Britt, William J., Brower, Laura, Brown, Maria D., Brownell, Jefferson N., Browning, Meghen B., Brunetti-Pierri, Nicola, Bunyavanich, Supinda, Burstein, Danielle S., Bustinduy, Amaya L., Buyon, Jill P., Cabada, Miguel M., Cada, Michaela, Cairo, Mitchell S., Calello, Diane P., Cameron, Lindsay H., Campbell, Angela J.P., Candelaria, Margo, Cannon, Laura, Carlin, Rebecca F., Carlucci, James G., Carr, Michael R., Carrigan, Robert B., Carter, Rebecca G., Carter-Hamilton, Gail V., Case, Abigail, Chang, Pearl W., Chelimsky, Gisela G., Chelimsky, Thomas, Chemaitilly, Wassim, Chiotos, Kathleen, Chiu, Yvonne E., Chong, Hey Jin, Chou, Stella T., Christ, Lori A., Christenson, John C., Chugh, Ankur A., Cieslak, Theodore J., Claes, Donna J., Coates, Thomas D., Sánchez Códez, María I., Coffin, Susan E., Cohen, Mitchell B., Cohen, Susan S., Cole, F. Sessions, III, Collaco, J. Michael, Collins, James W., Jr., Congeni, Joseph A., Conrad, Máire A., Corcoran, Justin N., Corley, Alexandra M.S., Cox, Amanda L., Coyle, Anne M., Coyne-Beasley, Tamera, Craig, Sansanee S., Creighton, Sarah M., Crigger, Chad B., Crowe, James E., Jr., Culbert, Gabriel, Czinn, Steven J., Dalal, Aarti S., Dalmau, Josep, D’Andrea, Lynn A., Danziger-Isakov, Lara A., Darville, Toni, David, Richard J., Davidoff, Katharine, Davidson, Loren T., Davidson, Richard S., Davies, H. Dele, Davis, Stephanie D., Davis-Kankanamge, Christina, Daw, Najat C., Dean, Shannon L., DeBiasi, Roberta L., Delair, Shirley, DeLaroche, Amy M., De León-Crutchlow, Diva D., Oquendo Del Toro, Helen M., Del Valle Mojica, Coralee, DeMaso, David R., Dendrinos, Melina L., Dent, Arlene E., Desnick, Robert J., Deterding, Robin R., Devarajan, Prasad, deVeber, Gabrielle A., Dhar, Vineet K., Dhossche, Julie M., Diab, Liliane K., Di Carlo, Heather N., Dietz, Harry C., III, Dietze-Fiedler, Megan L., DiMeglio, Linda A., Dixon, Bradley P., DiVasta, Amy D., Dlamini, Nomazulu, Dobbs, Katherine R., Dodhia, Sonam N., Doerholt, Katja, Dolin, Cara D., Dominguez, Samuel R., Donohoue, Patricia A., Dow, Jennifer, Downes, Kevin J., Doyle, Daniel A., Doyle, Jefferson J., Dror, Yigal, Dubowitz, Howard, Dumler, J. Stephen, Duncan, Andrea F., Durant, Nefertiti H., Dvergsten, Jeffrey A., Earing, Michael G., Eberly, Col. Matthew D., Egan, Marie E., Eichenwald, Eric C., Elkadri, Abdul-Aziz K., Englander, Elizabeth, Ericson, Jessica E., Erkan, Elif, Etzel, Ruth A., Evans, Sarah Helen, Faherty, Erin, Falk, Marni J., Familiar-Lopez, Itziar, Fargo, John H., Feemster, Kristen A., Fehnel, Katie P., Feigelman, Susan, Feldman, Amy G., Feldman, Heidi M., Fels, Edward C., Felner, Eric I., Feng, Sing-Yi, Ferkol, Thomas W., Jr., Finberg, Karin E., Finder, Jonathan D., Fiorino, Kristin N., Fischer, Philip R., Fitzpatrick, Anne M., Flannery, Dustin D., Fleming, Nicholas L., Flood, Veronica H., Flores, Francisco X., Flynn, Joseph T., Flynn, Patricia M., Foglia, Elizabeth E., Forkey, Heather C., Forman, Joel A., Freeman, Alexandra F., Friedman, Deborah M., Friedman, Susan A., Friehling, Erika D., Fritz, Stephanie A., Frush, Donald P., Fuleihan, Ramsay L., Gahagan, Sheila, Gallagher, Patrick G., Galloway, David P., Gans, Hayley A., Garber, Andrea K., Gardiner, Paula M., Garibaldi, Luigi R., Gauthier, Gregory M., Gerber, Jeffrey S., Gershon, Anne A., Ghadersohi, Saied, Gibbs, Kathleen A., Gibson, Mark, Gigante, Joseph, Gigliotti, Francis, Gilley, Stephanie P., Gilliam, Walter S., Ginde, Salil, Girotto, John A., Goldfarb, Samuel B., Goldman, David L., Goldman, Stanton C., Gómez-Duarte, Oscar G., Good, Misty, Goodbody, Christine M., Goodman, Denise M., Goodman, Tracey, Goodyer, William R., Gordon, Catherine M., Gordon, Leslie B., Gordon, Rebecca J., Gordon-Lipkin, Eliza, Gorelik, Michael, Gower, W. Adam, Graber, Evan G., Graff, Zachary T., Graham, Robert J., Green, Cori M., Green, Michael, Greenbaum, Larry A., Greenbaum, V. Jordan, Greiner, Mary V., Griffiths, Anne G., Grizzle, Kenneth L., Groner, Judith A., Grumach, Anete Sevciovic, Gueye-Ndiaye, Seyni, Guz-Mark, Anat, Haamid, Fareeda, Haddad, Gabriel G., Haddad, Joseph, Jr., Haemer, Matthew A., Hagan, Joseph F., Jr., Haider, Suraiya K., Hakim, Hana, Haldeman-Englert, Chad R., Halstead, Scott B., Hamie, Lamiaa, Hammerschlag, Margaret R., Hammershaimb, E. 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2025
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50. Disorders of Haem Biosynthesis

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Lourenço, Charles Marquez, Lee, Chul, Anderson, Karl E., Saudubray, Jean-Marie, editor, van den Berghe, Georges, editor, and Walter, John H., editor

Published
2012
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