about
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisLathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseInnovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis PathwayFrom genes to environment: using integrative genomics to build a "systems-level" understanding of autism spectrum disordersSpontaneous preterm birth and single nucleotide gene polymorphisms: a recent updateMonogenic dyslipidemias: window on determinants of plasma lipoprotein metabolismGene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesisMalformation syndromes due to inborn errors of cholesterol synthesisPolymorphisms of CYP51A1 from cholesterol synthesis: associations with birth weight and maternal lipid levels and impact on CYP51 protein structure.Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic featuresLipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome.The liver plays a key role in whole body sterol accretion of the neonatal Golden Syrian hamster.Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.The role of cholesterol in rod outer segment membranes.Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes.Lamin B receptor: multi-tasking at the nuclear envelope.Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome.A comparison of the packing behavior of egg phosphatidylcholine with cholesterol and biogenically related sterols in Langmuir monolayer films
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Inborn errors of cholesterol biosynthesis.
@ast
Inborn errors of cholesterol biosynthesis.
@en
Inborn errors of cholesterol biosynthesis.
@nl
type
label
Inborn errors of cholesterol biosynthesis.
@ast
Inborn errors of cholesterol biosynthesis.
@en
Inborn errors of cholesterol biosynthesis.
@nl
prefLabel
Inborn errors of cholesterol biosynthesis.
@ast
Inborn errors of cholesterol biosynthesis.
@en
Inborn errors of cholesterol biosynthesis.
@nl
P1476
Inborn errors of cholesterol biosynthesis.
@en
P2093
P577
2000-01-01T00:00:00Z