Associated Papers
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.
Wang LY et al.
Bmc Medical Genetics, 2013
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.
Song YZ et al.
International Journal of Molecular Medicine, 2011
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
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