Late-onset spinal form xanthomatosis without brain lesion: a case report

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. Patients with typical CTX show neurological dysfunction including bilateral cataracts, paresis, cerebral ataxia, dementia, and psychiatric d...

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Dades bibliogràfiques
Publicat a:BMC Neurol
Autors principals: Yanagihashi, Masaru, Kano, Osamu, Terashima, Tomoya, Kawase, Yuji, Hanashiro, Sayori, Sawada, Masahiro, Ishikawa, Yuichi, Shiraga, Nobuyuki, Ikeda, Ken, Iwasaki, Yasuo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4748474/
https://ncbi.nlm.nih.gov/pubmed/26861945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0542-2
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