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Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans, Merel E; van Weeghel, Michel; Vaz, Frédéric M; Ferdinandusse, Sacha; Hollak, Carla E M; Huidekoper, Hidde H; Janssen, Mirian C H; van Kuilenburg, André B P; Pras-Raves, Mia L; Wamelink, Mirjam M C; Wanders, Ronald J A; Welsink-Karssies, Mendy M; Bosch, Annet M.
Afiliação
  • Hermans ME; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
  • van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
  • Vaz FM; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
  • Ferdinandusse S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
  • Hollak CEM; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
  • Huidekoper HH; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
  • Janssen MCH; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
  • van Kuilenburg ABP; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
  • Pras-Raves ML; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
  • Wamelink MMC; United for Metabolic Diseases, The Netherlands.
  • Wanders RJA; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.
  • Welsink-Karssies MM; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
  • Bosch AM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
J Inherit Metab Dis ; 45(6): 1094-1105, 2022 11.
Article em En | MEDLINE | ID: mdl-36053831

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Galactosemias Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Galactosemias Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos