Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races. Mutations in both sets of chromosomes often lead...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2014-07-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://www.jpnim.com/index.php/jpnim/article/view/148 |