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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-27067449
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenoleukodystrophy / ATP Binding Cassette Transporter, Subfamily D, Member 1 / Genetic Carrier Screening Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Document type: Article Affiliation country: Países Bajos Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenoleukodystrophy / ATP Binding Cassette Transporter, Subfamily D, Member 1 / Genetic Carrier Screening Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Document type: Article Affiliation country: Países Bajos Country of publication: Estados Unidos