An infant with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: the first Japanese case.
Terazawa
S
S
Division of Pediatrics, Gifu Kouseiren Gihoku General Hospital, Japan. terasawa@ko.road.ne.jp
Kimura
A
A
Inoue
T
T
Murai
T
T
Kurosawa
T
T
Takao
A
A
D001647:Bile Acids and Salts / Q000032:analysis; D006505:Hepatitis / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007223:Infant; D007564:Japan; D008111:Liver Function Tests; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009097:Multienzyme Complexes / Q000172:deficiency*; D011375:Progesterone Reductase / Q000172:deficiency*; D013251:Steroid Isomerases / Q000172:deficiency*
C021425:3 beta-hydroxysteroid oxidoreductase-delta(5) 3-ketosteroid isomerase; D001647:Bile Acids and Salts; D009097:Multienzyme Complexes; D011375:Progesterone Reductase; D013251:Steroid Isomerases