A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

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Enzymes involved in branched-chain amino acid metabolism in humans.

P2860

Q39190517-BD180862-605D-4AB5-BA3A-717F09245646

P2860

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Item

http://www.wikidata.org/entity/Q53043224

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@en

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@nl

type

Item

label

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@en

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@nl

prefLabel

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@en

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@nl

P1476

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

@en

P2093

Akosua Sarpong

http://www.w3.org/2001/XMLSchema#string

Carmen Lorenz

http://www.w3.org/2001/XMLSchema#string

Esther Gill

http://www.w3.org/2001/XMLSchema#string

Gudrun Schottmann

http://www.w3.org/2001/XMLSchema#string

Lisa Teschner

http://www.w3.org/2001/XMLSchema#string

Markus Schuelke

http://www.w3.org/2001/XMLSchema#string

Natalie Weinhold

http://www.w3.org/2001/XMLSchema#string

Ronald J A Wanders

http://www.w3.org/2001/XMLSchema#string

Sacha Ferdinandusse

http://www.w3.org/2001/XMLSchema#string

P2860

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Beta1,4-N-acetylgalactosaminyltransferase (GM2 synthase) is released from Golgi membranes as a neuraminidase-sensitive, disulfide-bonded dimer by a cathepsin D-like protease.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.

Assessing the bioenergetic profile of human pluripotent stem cells.

Glial metabolism of valine.

P304

1733-1739

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P31

scholarly article

P356

10.1002/MDS.26704

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English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Alessandro Prigione

P577

2016-07-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27400804

http://www.w3.org/2001/XMLSchema#string

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

about

P2860

P2860

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698