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

Por Wensink, Debby, Wagenmakers, Margreet AEM, Wilson, JH Paul, Langendonk, Janneke G
Publicado no World J Gastroenterol (2019)

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

Por Wensink, Debby, Wagenmakers, Margreet A. E. M., Barman-Aksözen, Jasmin, Friesema, Edith C. H., Wilson, J. H. Paul, van Rosmalen, Joost, Langendonk, Janneke G.
Publicado no JAMA Dermatol (2020)

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

Por 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
Publicado no JIMD Rep (2020)

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

Por 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.
Publicado em 2011

Medical and financial burden of acute intermittent porphyria

Por 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.
Publicado no J Inherit Metab Dis (2018)

Correction to: Medical and financial burden of acute intermittent porphyria

Por 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.
Publicado no 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

Por 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.
Publicado no Orphanet J Rare Dis (2019)

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

Por 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.
Publicado no Metabolites (2020)

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

Por 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.
Publicado no J Inherit Metab Dis (2020)

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

Por 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
Publicado no J Inherit Metab Dis (2018)

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

Por 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
Publicado no 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...

Por 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.
Publicado no J Inherit Metab Dis (2019)