Associated Papers
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.
Song YZ et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
[Citrin deficiency is an important etiology for cholestatic liver disease in children].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.
Lee NC et al.
Journal of Inherited Metabolic Disease, 2006
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2006
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
Lu YB et al.
Journal of Human Genetics, 2005
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.
Saheki T et al.
Molecular Genetics and Metabolism, 2004
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