ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
about
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseClinical, 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.Clinical and biochemical characterization of four patients with mutations in ECHS1.Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's diseaseSequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms.Metabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegansECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.Interactions of Hepatitis B Virus Infection with Nonalcoholic Fatty Liver Disease: Possible Mechanisms and Clinical Impact.Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.Leigh syndrome: One disorder, more than 75 monogenic causes.Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.Expanding the genetic spectrum of paroxysmal dyskinesias.ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.Enzymes involved in branched-chain amino acid metabolism in humans.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders.Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Treatable mitochondrial diseases: cofactor metabolism and beyond.Leigh syndrome: the genetic heterogeneity story continues.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.Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
P2860
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P2860
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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2014年學術文章
@zh-hant
name
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@en
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@nl
type
label
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@en
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@nl
prefLabel
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@en
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@nl
P2093
P356
P1433
P1476
ECHS1 mutations in Leigh disea ...... m affecting valine metabolism.
@en
P2093
Hans Waterham
Heidi Peters
James Pitt
Janet Koster
Jos Ruiter
Joy Yaplito-Lee
Nicole Buck
Sacha Ferdinandusse
P304
P356
10.1093/BRAIN/AWU216
P407
P577
2014-08-14T00:00:00Z