Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7α-hydroxylase gene
Journal
Journal of Pediatric Gastroenterology and Nutrition
Journal Volume
46
Journal Issue
4
Pages
465-469
Date Issued
2008
Author(s)
SDGs
Other Subjects
oxysterol 7 alpha hydroxylase; steroid monooxygenase; unclassified drug; ursodeoxycholic acid; anamnesis; article; Asian; bile acid synthesis; case report; clinical feature; gene mutation; human; human tissue; infant; intrahepatic cholestasis; laboratory test; liver biopsy; male; newborn disease; physical examination; priority journal; Bile Acids and Salts; Cholestasis; Cholesterol; Cytochrome P-450 Enzyme System; Fatal Outcome; Humans; Infant, Newborn; Liver Transplantation; Male; Metabolism, Inborn Errors; Microsomes, Liver; Mutation; Steroid Hydroxylases
Type
journal article