Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong-Reference-Cited by-同舟云学术

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

Published:2018-12 Issue: Volume:17 Page:3-8
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Chong S.C.,Lo P.,Chow C.W.,Yuen L.,Chu W.C.W.,Leung T.Y.,Hui J.,Scaglia F.

Funder

The Chinese University of Hong Kong

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference28 articles.

1. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD);Saheki;J. Hum. Genet.,2002

2. Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype. Zhongguo dang dai er ke za zhi=;Song;Chin. J. Contemp. Pediatr.,2009

3. A case of adult-onset type II citrullinemia having a liver histology of nonalcoholic steatohepatitis (NASH). Nihon Shokakibyo Gakkai zasshi;Fukumoto;Jpn. J. Gastroenterol.,2008

4. Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma;Tsai;J. Formos. Med. Assoc.,2006

5. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations;Yamaguchi;Hum. Mutat.,2002

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