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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:BMC Neurol
Glavni autori: Yanagihashi, Masaru, Kano, Osamu, Terashima, Tomoya, Kawase, Yuji, Hanashiro, Sayori, Sawada, Masahiro, Ishikawa, Yuichi, Shiraga, Nobuyuki, Ikeda, Ken, Iwasaki, Yasuo
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Case Report
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items