Citrullinemia
Definition:
References:
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[1]. Akiko Tamamori, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatr. 2002 Nov;161(11):609-13. [Content Brief]
[2]. Christoph Berning, et al. Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat. 2008 Oct;29(10):1222-7. [Content Brief]
[3]. Takeyori Saheki, et al. 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. Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. [Content Brief]
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