The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
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Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolismThe crystal structure of human mitochondrial 3-ketoacyl-CoA thiolase (T1): insight into the reaction mechanism of its thiolase and thioesterase activitiesKetone body metabolism and its defects.Hepatic gene expression profiles are altered by dietary unsalted korean fermented soybean (chongkukjang) consumption in mice with diet-induced obesity.A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionInborn errors of ketogenesis and ketone body utilization.Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyNomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.First report of 3-oxothiolase deficiency in iranβ-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms.Enzymes involved in branched-chain amino acid metabolism in humans.Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.Inborn errors of ketone body utilization.
P2860
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P2860
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The clinical phenotype and out ...... and mutation-defined patients.
@ast
The clinical phenotype and out ...... and mutation-defined patients.
@en
type
label
The clinical phenotype and out ...... and mutation-defined patients.
@ast
The clinical phenotype and out ...... and mutation-defined patients.
@en
prefLabel
The clinical phenotype and out ...... and mutation-defined patients.
@ast
The clinical phenotype and out ...... and mutation-defined patients.
@en
P2093
P356
P1476
The clinical phenotype and out ...... and mutation-defined patients.
@en
P2093
C R Scriver
t2 Collaborative Working Group
P304
P356
10.1006/MGME.2000.3113
P577
2001-02-01T00:00:00Z