(Q28146135)

English

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

scientific article (publication date: November 1999)

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scholarly article

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Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency (English)

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1 reference

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author name string

A Koizumi

1

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J Nozaki

2

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T Ohura

3

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T Kayo

4

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Y Wada

5

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J Nezu

6

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R Ohashi

7

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I Tamai

8

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Y Shoji

9

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G Takada

10

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S Kibira

11

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T Matsuishi

12

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A Tsuji

13

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language of work or name

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publication date

November 1999

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Human Molecular Genetics

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8

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2247-54

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12

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The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Sudden neonatal death in carnitine transporter deficiency.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Acetyl-L-carnitine fed to old rats partially restores mitochondrial function and ambulatory activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2247

21 January 2018

Identifiers

10.1093/HMG/8.12.2247

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