Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency-Reference-Cited by-同舟云学术

Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency

Published:1999-11-01 Issue:12 Volume:8 Page:2247-2254
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Koizumi A.,Nozaki J.-i.,Ohura T.,TsuyoshiKayo ,Wada Y.,Nezu J.-i.,Ohashi R.,Tamai I.,Shoji Y.,Takada G.,Kibira S.,Matsuishi T.,Tsuji A.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/8/12/2247/1882685/8-12-2247.pdf

Reference24 articles.

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

2. Systemic Carnitine Deficiency Presenting as Familial Endocardial Fibroelastosis

3. Sudden neonatal death in carnitine transporter deficiency

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

5. Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

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