Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

• मुख्य लेखकों: Ajmal Kader (लेखक), Christina Ong (लेखक), Veena Logarajah (लेखक), Kong Boo Phua (लेखक), Ee Shien Tan (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hygeia Press di Corridori Marinella, 2014-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...