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...

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Hlavní autoři:	Ajmal Kader, Christina Ong, Veena Logarajah, Kong Boo Phua, Ee Shien Tan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hygeia Press di Corridori Marinella 2014-07-01
Edice:	Journal of Pediatric and Neonatal Individualized Medicine
Témata:	citrin deficiency intrahepatic cholestasis niccd urine reducing substance galactosemia fatty liver
On-line přístup:	https://www.jpnim.com/index.php/jpnim/article/view/148
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