title: X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
authors.forename: Marc
authors.initials: M
authors.lastname: Engelen
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: Stephan
authors.initials: S
authors.lastname: Kemp
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Johannes T M
authors.initials: JT
authors.lastname: Koelman
authors.forename: Björn M
authors.initials: BM
authors.lastname: van Geel
authors.forename: Marianne
authors.initials: M
authors.lastname: de Visser
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D015153:Blotting, Western; D018387:Codon, Initiator; D003711:Demyelinating Diseases / Q000235:genetics*; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D020125:Mutation, Missense
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D018387:Codon, Initiator