Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report

door Wensink, Debby, Wagenmakers, Margreet AEM, Wilson, JH Paul, Langendonk, Janneke G
Gepubliceerd in World J Gastroenterol (2019)

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice

door Wensink, Debby, Wagenmakers, Margreet A. E. M., Barman-Aksözen, Jasmin, Friesema, Edith C. H., Wilson, J. H. Paul, van Rosmalen, Joost, Langendonk, Janneke G.
Gepubliceerd in JAMA Dermatol (2020)

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports an...

door Molema, Femke, Williams, Monique, Langendonk, Janneke, Darwish‐Murad, Sarwa, van de Wetering, Jacqueline, Jacobs, Ed, Onkenhout, Willem, Brusse, Esther, van der Eerden, Anke, Wagenmakers, Margreet
Gepubliceerd in JIMD Rep (2020)

Results of endoscopic transsphenoidal pituitary surgery in 40 patients with a growth hormone-secreting macroadenoma

door Wagenmakers, Margreet Albertina E. M., Netea-Maier, Romana T., van Lindert, Erik J., Pieters, Gerlach F. F. M., Grotenhuis, André J. A., Hermus, Ad R. M. M.
Gepubliceerd in 2011

Medical and financial burden of acute intermittent porphyria

door 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.
Gepubliceerd in J Inherit Metab Dis (2018)

Correction to: Medical and financial burden of acute intermittent porphyria

door 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.
Gepubliceerd in J Inherit Metab Dis (2018)

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

door 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.
Gepubliceerd in Orphanet J Rare Dis (2019)

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

door 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.
Gepubliceerd in Metabolites (2020)

Bone mineral density is within normal range in most adult phenylketonuria patients

door Lubout, Charlotte M. A., Blanco, Francisco Arrieta, Bartosiewicz, Katarzyna, Feillet, François, Gizewska, Maria, Hollak, Carla, van der Lee, Johanna H., Maillot, François, Stepien, Karolina M., Wagenmakers, Margreet A. E. M., Welsink‐Karssies, Mendy M., van Spronsen, Francjan J., Bosch, Annet M.
Gepubliceerd in J Inherit Metab Dis (2020)

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

door Oussoren, Esmee, Mathijssen, Irene M. J., Wagenmakers, Margreet, Verdijk, Rob M., Bredero-Boelhouwer, Hansje H., van Veelen-Vincent, Marie-Lise C., van der Meijden, Jan C., van den Hout, Johanna M. P., Ruijter, George J. G., van der Ploeg, Ans T., Langeveld, Mirjam
Gepubliceerd in J Inherit Metab Dis (2018)

Decreased Aerobic Exercise Capacity After Long-Term Remission From Cushing Syndrome: Exploration of Mechanisms

door 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
Gepubliceerd in J Clin Endocrinol Metab (2019)

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

door Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., van Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., van der Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., de Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, van Hasselt, Peter M.
Gepubliceerd in J Inherit Metab Dis (2019)