Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7α-hydroxylase gene

Ueki I.Kimura A.Nishiyori A.HUEY-LING CHENTakei H.Nittono H.Kurosawa T.2020-03-102020-03-1020080277-2116https://www.scopus.com/inward/record.uri?eid=2-s2.0-41449114765&doi=10.1097%2fMPG.0b013e31815a9911&partnerID=40&md5=55063d5df6fdfa2f72cc5ef080d06e9dhttps://scholars.lib.ntu.edu.tw/handle/123456789/475152English[SDGs]SDG3oxysterol 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 HydroxylasesNeonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7α-hydroxylase genejournal article10.1097/MPG.0b013e31815a9911183679632-s2.0-41449114765