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Your search keyword '"Mulder, Margot F."' showing total 10 results
Start Over Author "Mulder, Margot F." Journal journal of inherited metabolic disease
10 results on '"Mulder, Margot F."'

1. Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes, Hanneke A., primary, Molema, Femke, additional, Langeveld, Mirjam, additional, Janssen, Mirian C., additional, Bosch, Annet M., additional, Spronsen, Francjan, additional, Mulder, Margot F., additional, Verhoeven‐Duif, Nanda M., additional, Jans, Judith J.M., additional, Ploeg, Ans T., additional, Wagenmakers, Margreet A., additional, Rubio‐Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Vries, Maaike C., additional, Langendonk, Janneke G., additional, Williams, Monique, additional, and Hasselt, Peter M., additional

Published
2019
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2. A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

Author

Jager, Emmalie A., primary, Kuijpers, Myrthe M., additional, Bosch, Annet M., additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, Visser, Gepke, additional, Vries, Maaike, additional, Williams, Monique, additional, Waterham, Hans R., additional, Spronsen, Francjan J., additional, Schielen, Peter C. J. I., additional, and Derks, Terry G. J., additional

Published
2019
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3. Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, de Sain‐van der Velden, Monique G. M., additional, Rennings, Alexander J., additional, Schielen, Peter J. C. I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras‐Raves, Mia L., additional, Wanders, Ronald J. A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
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4. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Author

Williams, Monique, primary, Valayannopoulos, Vassili, additional, Altassan, Ruqaiah, additional, Chung, Wendy K., additional, Heijboer, Annemieke C., additional, Keng, Wei Teik, additional, Lapatto, Risto, additional, McClean, Patricia, additional, Mulder, Margot F., additional, Tylki‐Szymańska, Anna, additional, Walenkamp, Marie‐Jose E., additional, Alfadhel, Majid, additional, Alakeel, Hajar, additional, Salomons, Gajja S., additional, Eyaid, Wafaa, additional, and Wamelink, Mirjam M. C., additional

Published
2019
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5. Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, de Vries, Maaike, additional, Derks, Terry G.J., additional, Mulder, Margot F., additional, Williams, Monique, additional, Gozalbo, Estela Rubio, additional, Bosch, Annet M., additional, van den Hurk, Dorine T., additional, de Sain‐van der Velden, Monique G.M., additional, Waterham, Hans R., additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
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6. Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, and Hasselt, Peter M.

Abstract

Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch PA and MMA patients, diagnosed between January 1979 and July 2019, was evaluated. Five clinical outcome parameters were defined: adverse outcome of the first symptomatic phase, frequency of acute metabolic decompensations (AMD), cognitive function, mitochondrial complications, and treatment‐related complications. Outcomes of patients identified by family testing were compared with the outcomes of their index siblings. An adverse outcome due to the first symptomatic phase was recorded in 46% of the clinically diagnosed patients. Outcome of the first symptomatic phase was similar in 5/9 sibling pairs and better in 4/9 pairs. Based on the day of diagnosis of the clinically diagnosed patients and sibling pair analysis, a preliminary estimated reduction of adverse outcome due to the first symptomatic phase from 46% to 36%‐38% was calculated. Among the sibling pairs, AMD frequency, cognitive function, mitochondrial, and treatment‐related complications were comparable. These results suggest that the health gain of NBS for PA and MMA in overall outcome may be limited, as only a modest decrease of adverse outcomes due to the first symptomatic phase is expected. With current clinical practice, no reduced AMD frequency, improved cognitive function, or reduced frequency of mitochondrial or treatment‐related complications can be expected. [ABSTRACT FROM AUTHOR]

Published
2020
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7. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, de Vries, Maaike, additional, Derks, Terry G. J., additional, Mulder, Margot F., additional, Williams, Monique, additional, Rubio Gozalbo, Estela, additional, Bosch, Annet M., additional, van den Hurk, Dorine T., additional, de Sain-van der Velden, Monique G. M., additional, Waterham, Hans R., additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2018
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8. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

Author

Brands, Marion M. G., primary, Güngör, Deniz, additional, van den Hout, Johanna M. P., additional, Karstens, Francois P. J., additional, Oussoren, Esmee, additional, Plug, Iris, additional, Boelens, Jaap Jan, additional, van Hasselt, Peter M., additional, Hollak, Carla E. M., additional, Mulder, Margot F., additional, Gozalbo, Estela Rubio, additional, Smeitink, Jan A., additional, Smit, G. Peter A., additional, Wijburg, Frits A., additional, Meutgeert, Hanka, additional, and van der Ploeg, Ans T., additional

Published
2014
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10. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

Author

Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, and van der Ploeg AT

Subjects
Adolescent, Adult, Arthralgia diagnosis, Arthralgia psychology, Child, Child, Preschool, Chronic Pain diagnosis, Chronic Pain psychology, Cost of Illness, Cross-Sectional Studies, Disability Evaluation, Female, Health Care Surveys, Humans, Intellectual Disability diagnosis, Intellectual Disability epidemiology, Intellectual Disability psychology, Male, Middle Aged, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses psychology, Netherlands epidemiology, Pain Measurement, Persons with Intellectual Disabilities psychology, Prevalence, Quality of Life, Surveys and Questionnaires, Young Adult, Arthralgia epidemiology, Chronic Pain epidemiology, Mucopolysaccharidoses epidemiology
Abstract

Background: While clinical observations suggest that many patients with mucopolysaccharidosis (MPS) experience chronic pain, few studies have assessed its extent and impact. We therefore investigated its prevalence in patients with all types of MPS in the Netherlands. We also examined the association between pain and health related quality of life (HRQoL) and other clinical variables., Methods: We conducted a nationwide MPS survey that used questionnaires on MPS and disease-related symptoms (MPS-specific questionnaire), developmental level (Vineland Screener 0-6 years), quality of life (PedsQl and SF-36), and disability (Childhood Health Assessment Questionnaire). Depending on their age and developmental level, patients or their parents were asked to assess pain by keeping a pain diary for five consecutive days: either the Non-communicating Children's Pain Checklist - Revised (3-18 years intellectually disabled and children <8 years), the VAS-score (> 18 years), or the Faces Pain Scale - Revised (8-18 years)., Results: Eighty-nine MPS patients were invited, 55 of whom agreed to participate (response rate 62 %; median age 10.9 years, range 2.9-47.2 years). They covered a wide spectrum in all age groups, ranging from no pain to severe pain. Forty percent scored above the cut-off value for pain. Most reported pain sites were the back and hips. While the MPS III group experienced the highest frequency of pain (52.9 %), 50 % of patients with an intellectual disability seemed to experience pain, versus 30 % of patients with a normal intelligence. MPS patients scored much lower (i.e., more pain) than a random sample of the Dutch population on the bodily pain domain of the SF-36 scale and the PedsQl., Conclusion: With or without intellectual disabilities, many MPS patients experience pain. We recommend that standardized pain assessments are included in the regular follow-up program of patients with MPS.

Published
2015
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