Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice
Wensink, Debby, Wagenmakers, Margreet A E M, Barman-Aksözen, Jasmin, Friesema, Edith C H, Wilson, J H Paul, van Rosmalen, Joost, Langendonk, Janneke G
Published in JAMA dermatology (Chicago, Ill.) (01.05.2020)
Published in JAMA dermatology (Chicago, Ill.) (01.05.2020)
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Journal Article
Medical and financial burden of acute intermittent porphyria
Neeleman, Rochus A., Wagenmakers, Margreet A. E. M., Koole-Lesuis, Rita H., Mijnhout, G. Sophie, Wilson, J. H. Paul, Friesema, Edith C. H., Langendonk, Janneke G.
Published in Journal of inherited metabolic disease (01.09.2018)
Published in Journal of inherited metabolic disease (01.09.2018)
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Journal Article
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M
Published in Orphanet journal of rare diseases (12.11.2019)
Published in Orphanet journal of rare diseases (12.11.2019)
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Journal Article
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up
Ismailova, Gamida, Wagenmakers, Margreet A. E. M, Brusse, Esther, van der Ploeg, Ans T, Favejee, Marein M, van der Beek, Nadine A. M. E, van den Berg, Linda E. M
Published in Orphanet journal of rare diseases (11.10.2023)
Published in Orphanet journal of rare diseases (11.10.2023)
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Journal Article
Mucolipidosis type II and type III: a systematic review of 843 published cases
Dogterom, Emma J., Wagenmakers, Margreet A. E. M., Wilke, Martina, Demirdas, Serwet, Muschol, Nicole M., Pohl, Sandra, Meijden, Jan C. van der, Rizopoulos, Dimitris, Ploeg, Ans T. van der, Oussoren, Esmée
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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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?
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, Hasselt, Peter M.
Published in Journal of inherited metabolic disease (01.05.2020)
Published in Journal of inherited metabolic disease (01.05.2020)
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Journal Article
Quality of life in children with erythropoietic protoporphyria: a case–control study
Kluijver, Louisa G., Wensink, Debby, Wagenmakers, Margreet A. E. M., Huidekoper, Hidde H., Witters, Peter, Rymen, Daisy, Langendonk, Janneke G.
Published in Journal of dermatology (01.08.2024)
Published in Journal of dermatology (01.08.2024)
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Journal Article
Decreased Aerobic Exercise Capacity After Long-Term Remission From Cushing Syndrome: Exploration of Mechanisms
Roerink, Sean H P P, Cocks, Matthew S, Wagenmakers, Margreet A E M, Rodighiero, Raffaella P, Strauss, Juliette A, Shepherd, Sam O, Plantinga, Theo S, Thijssen, Dick H J, Hopman, Maria T E, Pereira, Alberto M, Smit, Jan W, Wagenmakers, Anton J M, Netea-Maier, Romana T, Hermus, Ad R M M
Published in The journal of clinical endocrinology and metabolism (01.04.2020)
Published in The journal of clinical endocrinology and metabolism (01.04.2020)
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Bone mineral density is within normal range in most adult phenylketonuria patients
Lubout, Charlotte M. A., Blanco, Francisco Arrieta, Bartosiewicz, Katarzyna, Feillet, François, Gizewska, Maria, Hollak, Carla, Lee, Johanna H., Maillot, François, Stepien, Karolina M., Wagenmakers, Margreet A. E. M., Welsink‐Karssies, Mendy M., Spronsen, Francjan J., Bosch, Annet M.
Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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Journal Article
Correction to: Medical and financial burden of acute intermittent porphyria
Neeleman, Rochus A., Wagenmakers, Margreet A. E. M., Koole-Lesuis, Rita H., Mijnhout, G. Sophie, Wilson, J. H. Paul, Friesema, Edith C. H., Langendonk, Janneke G.
Published in Journal of inherited metabolic disease (01.11.2018)
Published in Journal of inherited metabolic disease (01.11.2018)
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Journal Article
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
Bode, Chiel J., Dogterom, Emma J., Rozeboom, Antoinette V. J., Langendonk, Janneke J., Wolvius, Eppo B., Ploeg, Ans T., Oussoren, Esmée, Wagenmakers, Margreet A. E. M.
Published in JIMD reports (01.11.2022)
Published in JIMD reports (01.11.2022)
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Journal Article
The effects of cholecalciferol and afamelanotide on vitamin D levels in erythropoietic protoporphyria; a multicentre cohort study
Kluijver, Louisa G, Nekouei Shahraki, Mitra, Wagenmakers, Margreet A E M, Hanssen, Bettina E, Kuerten, Viola, Schelonke, Kathrin, Homey, Bernhard, Langendonk, Janneke G
Published in British journal of dermatology (1951) (14.08.2024)
Published in British journal of dermatology (1951) (14.08.2024)
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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism
Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Jacobs, Edwin H, Oussoren, Esmee, van der Ploeg, Ans T, Wagenmakers, Margreet A E M, Hofstra, Robert M W, Blom, Henk J, Reinders, Marcel J T, Ruijter, George J G
Published in Metabolites (25.12.2020)
Published in Metabolites (25.12.2020)
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Journal Article
Liver involvement in patients with erythropoietic protoporphyria
Wensink, Debby, Coenen, Sandra, Wilson, J.H. Paul, Wagenmakers, Margreet A.E.M., Langendonk, Janneke G.
Published in Digestive and liver disease (01.04.2022)
Published in Digestive and liver disease (01.04.2022)
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Journal Article
Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study
Wensink, Debby, Wagenmakers, Margreet A.E.M., Qi, Hongchao, Wilson, J.H. Paul, Langendonk, Janneke G.
Published in Molecular genetics and metabolism (01.03.2022)
Published in Molecular genetics and metabolism (01.03.2022)
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Journal Article
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives
Oussoren, Esmee, Wagenmakers, Margreet A.E.M., Link, Bianca, van der Meijden, Jan C., Pijnappel, W.W.M. Pim, Ruijter, George J.G., Langeveld, Mirjam, van der Ploeg, Ans T.
Published in Bone (New York, N.Y.) (01.02.2021)
Published in Bone (New York, N.Y.) (01.02.2021)
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A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)
Balfoort, Berith M, Van Den Broeck, Filip, Brands, Marion M, van Karnebeek, Clara D, Bergen, Arthur A, van den Born, L Ingeborgh, Houtkooper, Riekelt H, Wagenmakers, Margreet A E M, De Zaeytijd, Julie, Leroy, Bart P, Boon, Camiel J F, Diederen, Roselie M H
Published in Graefe's archive for clinical and experimental ophthalmology (07.06.2024)
Published in Graefe's archive for clinical and experimental ophthalmology (07.06.2024)
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Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
Balfoort, Berith M., Pampalone, Gioena, Ruiter, Jos P.N., Denis, Simone W., Brands, Marion M., Timmer, Corrie, Wagenmakers, Margreet A.E.M., Wanders, Ronald J.A., van Karnebeek, Clara D., Cellini, Barbara, Houtkooper, Riekelt H., Ferdinandusse, Sacha
Published in Molecular genetics and metabolism (01.09.2024)
Published in Molecular genetics and metabolism (01.09.2024)
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