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  1. 1
    5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

    5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings by Lelde Liepina, Desiree E. C. Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie‐Claire deWit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J. Blom

    Published 2024-03-01
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  2. 2
    The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

    The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) by Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders

    Published 2024-11-01
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