| Literature DB >> 11343052 |
Y Tazawa1, K Kobayashi, T Ohura, D Abukawa, F Nishinomiya, Y Hosoda, M Yamashita, I Nagata, Y Kono, T Yasuda, N Yamaguchi, T Saheki.
Abstract
Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.Entities:
Mesh：
Year: 2001 PMID： 11343052 DOI： 10.1067/mpd.2001.113264
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406