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 2018

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review

por de Bode, Chiel J., Dogterom, Emma J., Rozeboom, Antoinette V. J., Langendonk, Janneke J., Wolvius, Eppo B., van der Ploeg, Ans T., Oussoren, Esmée, Wagenmakers, Margreet A. E. M.
Publicado 2022

Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up

por 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.
Publicado 2023

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 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 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 2020

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

por Haring, Martijn P.D., Peeks, Fabian, Oosterveer, Maaike H., Brouwers, Martijn C.G.J., Hollak, Carla E.M., Janssen, Mirian C.H., Langendonk, Janneke G., Rennings, Alexander J.M., Wagenmakers, Margreet A.E.M., Verkade, Henkjan J., Derks, Terry G.J., de Meijer, Vincent E.
Publicado 2022

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 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 2019