Author:
Hayasaka Kiyoshi,Numakura Chikahiko,Toyota Kentaro,Kakizaki Satoru,Watanabe Hisayoshi,Haga Hiroaki,Takahashi Hiroshi,Takahashi Yoshimi,Kaneko Mieko,Yamakawa Mitsunori,Nunoi Hiroyuki,Kato Takeo,Ueno Yoshiyuki,Mori Masatomo
Funder
Ministry of Health, Labor and Welfare
Subject
Endocrinology,Genetics,Molecular Biology
Reference20 articles.
1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999
2. Citrin deficiency and current treatment concepts;Saheki;Mol. Genet. Metab.,2010
3. MA. Jalil, MX. Li, M. Ushikai, M. Iijima, I. Kondo, T. Saheki, 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
4. Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency;Hayasaka;JIMD Rep.,2012
5. Citrin deficiency, a perplexing global disorder;Dimmock;Mol. Genet. Metab.,2009
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