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Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

http://www.wikidata.org/entity/Q33793717

about

The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom Role of mitochondrial dysfunction and dopamine-dependent oxidative stress in amphetamine-induced toxicity.Mitochondrial DNA repair in aging and disease

P2860

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P2860

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

http://www.wikidata.org/entity/Q33793717

description

1999 nî lūn-bûn

@nan

1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

1999年の論文

@ja

1999年論文

@yue

1999年論文

@zh-hant

1999年論文

@zh-hk

1999年論文

@zh-mo

1999年論文

@zh-tw

1999年论文

@wuu

name

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

@ast

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

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type

label

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

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Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

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prefLabel

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

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Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

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Clinical Chemistry and Laboratory Medicine

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Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

@en

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C Philbrook

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

K D Gerbitz

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

K Gempel

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M F Bauer

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

M Jaksch

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S Hofmann

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P2860

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

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

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

Genetic and structural characterization of the human mitochondrial inner membrane translocase

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

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855-876

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scholarly article

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10.1515/CCLM.1999.129

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9

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37

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1999-09-01T00:00:00Z

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