A carregar...

Mutations in the Bile Acid Biosynthetic Enzyme Sterol 27-Hydroxylase Underlie Cerebrotendinous Xanthomatosis()

The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Depo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Cali, James J., Hsieh, Chih-Lin, Francke, Uta, Russell, David W.
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4449724/
https://ncbi.nlm.nih.gov/pubmed/2019602
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!