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Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann, Martin J A; Ofman, Rob; van Geel, Björn M; Dijkstra, Inge M E; van Engelen, Klaartje; Wanders, Ronald J A; Engelen, Marc; Kemp, Stephan.
Afiliação
  • Schackmann MJ; Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Ofman R; Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • van Geel BM; Department of Neurology, Medical Center Alkmaar, Alkmaar, The Netherlands.
  • Dijkstra IM; Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • van Engelen K; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Wanders RJ; Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Engelen M; Departments of Pediatrics and Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Kemp S; Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Departments of Pediatrics and Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amster
Mol Genet Metab ; 118(2): 123-7, 2016 06.
Article em En | MEDLINE | ID: mdl-27067449
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adrenoleucodistrofia / Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP / Triagem de Portadores Genéticos Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adrenoleucodistrofia / Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP / Triagem de Portadores Genéticos Idioma: En Ano de publicação: 2016 Tipo de documento: Article