Neurodevelopmental manifestations of mitochondrial disease. - Wikidata - awgldk - TriplyDB

Neurodevelopmental manifestations of mitochondrial disease.

Neurodevelopmental manifestations of mitochondrial disease.

http://www.wikidata.org/entity/Q37784963

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Neurodevelopmental manifestations of mitochondrial disease.

http://www.wikidata.org/entity/Q37784963

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on September 2010

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Neurodevelopmental manifestations of mitochondrial disease.

@en

Neurodevelopmental manifestations of mitochondrial disease.

@nl

type

label

Neurodevelopmental manifestations of mitochondrial disease.

@en

Neurodevelopmental manifestations of mitochondrial disease.

@nl

prefLabel

Neurodevelopmental manifestations of mitochondrial disease.

@en

Neurodevelopmental manifestations of mitochondrial disease.

@nl

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Journal of Developmental and Behavioral Pediatrics

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Neurodevelopmental manifestations of mitochondrial disease

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Marni J Falk

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P2860

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

Treatment for mitochondrial disorders

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

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