- Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants
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Ko JS, Song JH, Park SS, Seo JK
- KMID: 1785752
- J Korean Med Sci.
- 2007 Dec;22(6):952-956.
- doi: 10.3346/jkms.2007.22.6.952
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here,... -
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