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Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
den Hollander, Bibiche; Brands, Marion M; de Boer, Lonneke; Haaxma, Charlotte A; Lengyel, Anna; van Essen, Peter; Peters, Gera; Kwast, Hanneke J T; Klein, Willemijn M; Coene, Karlien L M; Lefeber, Dirk J; van Karnebeek, Clara D M.
  • den Hollander B; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
  • Brands MM; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • de Boer L; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.
  • Haaxma CA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
  • Lengyel A; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • van Essen P; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.
  • Peters G; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Kwast HJT; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Klein WM; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Coene KLM; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Lefeber DJ; Pediatric Center, Semmelweis University, Budapest, Hungary.
  • van Karnebeek CDM; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 46(5): 956-971, 2023 09.
Article en En | MEDLINE | ID: mdl-37340906
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Ácido N-Acetilneuramínico Tipo de estudio: Observational_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Ácido N-Acetilneuramínico Tipo de estudio: Observational_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article