X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

Journal of the Peripheral Nervous System

Volumn 16, Issue 4, 2011, Pages 353-355

  Engelen, Marc ^a   Van Der Kooi, Anneke J ^a   Kemp, Stephan ^a   Wanders, Ronald J A ^a   Sistermans, Erik A ^b   Waterham, Hans R ^a   Koelman, Johannes T M ^a   Van Geel, Björn M ^a,c   De Visser, Marianne ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Location Alkmaar   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER D1; TETRACOSACTIDE; UNCLASSIFIED DRUG;

ADRENAL CORTEX INSUFFICIENCY; ADRENOLEUKODYSTROPHY; CODON; DEMYELINATING NEUROPATHY; DNA DETERMINATION; LABORATORY TEST; LETTER; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POLYNEUROPATHY; PRIORITY JOURNAL;

ADRENOLEUKODYSTROPHY; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BLOTTING, WESTERN; CODON, INITIATOR; DEMYELINATING DISEASES; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MALE; MUTATION, MISSENSE;

EID: 83755196089     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2011.00367.x     Document Type: Letter

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