Your browser doesn't support javascript.
loading
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies, Mendy M; van Weeghel, Michel; Hollak, Carla E M; Elfrink, Hyung L; Janssen, Mirian C H; Lai, Kent; Langendonk, Janneke G; Oussoren, Esmee; Ruiter, Jos P N; Treacy, Eileen P; de Vries, Maaike; Ferdinandusse, Sacha; Bosch, Annet M.
Afiliação
  • Welsink-Karssies MM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • van Weeghel M; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Elfrink HL; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lai K; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, United States.
  • Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
  • Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
  • Ruiter JPN; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Treacy EP; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin, Ireland.
  • de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Ferdinandusse S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: a.m.bosch@amsterdamumc.nl.
Mol Genet Metab ; 129(3): 171-176, 2020 03.
Article em En | MEDLINE | ID: mdl-31954591
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibroblastos / Galactose / Galactosemias Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibroblastos / Galactose / Galactosemias Idioma: En Ano de publicação: 2020 Tipo de documento: Article