Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

Item
http://www.wikidata.org/entity/Q35200444
Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfaGenomics and proteomics of vertebrate cholesterol ester lipase (LIPA) and cholesterol 25-hydroxylase (CH25H)Comparative studies of mammalian acid lipases: Evidence for a new gene family in mouse and rat (Lipo)Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.The metabolic serine hydrolases and their functions in mammalian physiology and disease.PRD125, a potent and selective inhibitor of sterol O-acyltransferase 2 markedly reduces hepatic cholesteryl ester accumulation and improves liver function in lysosomal acid lipase-deficient miceThe cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteinsFrequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonanceLysosomal Acid Lipase Hydrolyzes Retinyl Ester and Affects Retinoid TurnoverLysosomal storage disorders in the newborn.Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.
P2860

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

Item
http://www.wikidata.org/entity/Q35200444
description
1984 nî lūn-bûn
@nan
1984 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@ast
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@en
type
label
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@ast
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@en
prefLabel
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@ast
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Cholesteryl ester storage dise ...... yl ester hydrolase deficiency.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932