Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period-Reference-Cited by-同舟云学术

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period

Published:2009-05 Issue:1 Volume:97 Page:21-26
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Nagasaka Hironori,Okano Yoshiyuki,Tsukahara Hirokazu,Shigematsu Yosuke,Momoi Toru,Yorifuji Junko,Miida Takashi,Ohura Toshihiro,Kobayashi Keiko,Saheki Takeyori,Hirano Kenichi,Takayanagi Masaki,Yorifuji Tohru

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

1. Type II citrullinemia (citrin deficiency): a mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein;Kobayashi,2000

2. Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline;Saheki;J. Clin. Biochem. Nutr.,1986

3. Diseases caused by mitochondria transporters;Palmieri;Biochim. Biophys. Acta,2008

4. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999

5. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia;Yasuda;Hum. Genet.,2000

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