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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
van de Stadt, Stephanie I W; Mooyer, Petra A W; Dijkstra, Inge M E; Dekker, Conny J M; Vats, Divya; Vera, Moin; Ruzhnikov, Maura R Z; van Haren, Keith; Tang, Nelson; Koop, Klaas; Willemsen, Michel A; Hui, Joannie; Vaz, Frédéric M; Ebberink, Merel S; Engelen, Marc; Kemp, Stephan; Ferdinandusse, Sacha.
Affiliation
  • van de Stadt SIW; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Mooyer PAW; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Dijkstra IME; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Dekker CJM; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Vats D; Regional Metabolic Clinic, Department of Medical Genetics, Southern California Permanente Medical Group, Los Angeles, CA 90027, USA.
  • Vera M; Regional Metabolic Clinic, Department of Medical Genetics, Southern California Permanente Medical Group, Los Angeles, CA 90027, USA.
  • Ruzhnikov MRZ; Departments of Neurology and Neurological Sciences and Pediatrics, Stanford, CA 94305, USA.
  • van Haren K; Departments of Neurology and Neurological Sciences and Pediatrics, Stanford, CA 94305, USA.
  • Tang N; Department of Chemical Pathology, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Koop K; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.
  • Willemsen MA; Department of Pediatric Neurology, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.
  • Hui J; Department of Pediatrics & Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.
  • Vaz FM; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Ebberink MS; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Kemp S; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
  • Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Genes (Basel) ; 12(12)2021 11 30.
Article in En | MEDLINE | ID: mdl-34946879
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenoleukodystrophy / Fibroblasts / ATP Binding Cassette Transporter, Subfamily D, Member 1 / Mutation Type of study: Prognostic_studies Limits: Adult / Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2021 Type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenoleukodystrophy / Fibroblasts / ATP Binding Cassette Transporter, Subfamily D, Member 1 / Mutation Type of study: Prognostic_studies Limits: Adult / Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2021 Type: Article Affiliation country: Netherlands