Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene.
Ueki
Isao
I
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Kimura
Akihiko
A
Nishiyori
Atsushi
A
Chen
Huey-Ling
HL
Takei
Hajime
H
Nittono
Hiroshi
H
Kurosawa
Takao
T
D001647:Bile Acids and Salts / Q000096:biosynthesis*; D002779:Cholestasis / Q000175:diagnosis* / Q000235:genetics; D002784:Cholesterol / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency* / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D008862:Microsomes, Liver / Q000201:enzymology*; D009154:Mutation; D013250:Steroid Hydroxylases / Q000172:deficiency* / Q000235:genetics*
D001647:Bile Acids and Salts; D003577:Cytochrome P-450 Enzyme System; D002784:Cholesterol; D013250:Steroid Hydroxylases; C115867:oxysterol 7-alpha-hydroxylase