Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

• Ngā kaituhi matua: Ajmal Kader (Author), Christina Ong (Author), Veena Logarajah (Author), Kong Boo Phua (Author), Ee Shien Tan (Author)
• Hōputu: Pukapuka
• I whakaputaina: Hygeia Press di Corridori Marinella, 2014-07-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

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...