Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
about
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionDeficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Screening of metagenomic and genomic libraries reveals three classes of bacterial enzymes that overcome the toxicity of acrylate.Clinical and biochemical characterization of four patients with mutations in ECHS1.Metabolic annotation of 2-ethylhydracrylic acidSuccessful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's diseaseMetabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAsElevated levels of branched-chain amino acids have little effect on pancreatic islet cells, but L-arginine impairs function through activation of the endoplasmic reticulum stress response.Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.Night Shift Work Affects Urine Metabolite Profiles of Nurses with Early Chronotype
P2860
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P2860
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@ast
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@en
type
label
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@ast
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@en
prefLabel
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@ast
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@en
P2860
P1476
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
@en
P2093
Ference J Loupatty
Marinus Duran
P2860
P2888
P356
10.1007/S10545-010-9236-X
P577
2010-11-23T00:00:00Z