Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle-Reference-Cited by-同舟云学术

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Published:2004-04 Issue: Volume:81 Page:20-26
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Saheki Takeyori,Kobayashi Keiko,Iijima Mikio,Horiuchi Masahisa,Begum Laila,Jalil Md.Abdul,Li Meng Xian,Lu Yao Bang,Ushikai Miharu,Tabata Ayako,Moriyama Mitsuaki,Hsiao Kwang-Jen,Yang Yanling

Publisher

Elsevier BV

Subject

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

Reference51 articles.

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2. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients;Gao;Hum. Mutat.,2003

3. Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan;Saheki;J. Inherit. Metab. Dis.,1985

4. Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia;Saheki;Clin. Chim. Acta,1981

5. Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients;Saheki;Clin. Chim. Acta,1982

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