Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease.
Ana Claudia Rodrigues de
AC
Cerqueira
Antônio Egídio
AE
Nardi
Jose Marcelo Ferreira
JM
Bezerra
D000328:Adult; D019826:Cholic Acid / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000188:drug therapy; D016896:Treatment Outcome; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000188:drug therapy*
D019826:Cholic Acid
Arch Neurol. 2002 Apr;59(4):527-9
11939886
Brain. 2001 Jan;124(Pt 1):121-31
11133792
N Engl J Med. 1987 May 14;316(20):1233-8
3106810
Pediatrics. 2009 Jan;123(1):143-7
19117873
Biochem Med. 1975 Sep;14(1):57-74
1212241
J Biol Chem. 1991 Apr 25;266(12):7779-83
2019602
Arch Neurol. 1968 Jul;19(1):47-53
5676919
Chang Gung Med J. 2002 May;25(5):334-40
12141707
N Engl J Med. 1984 Dec 27;311(26):1649-52
6504105
J Child Neurol. 2003 Sep;18(9):633-8
14572142