Article
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis.
Gene - 1 Sept 2012
Lin Wei-Xia, Zhang Zhan-Hui, Deng Mei, Cai Xiang-Ran, Song Yuan-Zong
Abstract excerpt
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by the dysfunction of citrin, an aspartate/glutamate carrier encoded by the SLC25A13 gene. Considerable progress has been made on the diagnosis and treatment of NICCD, but its clinical a...
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