3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman.
Kobayashi
M
M
Department of Pediatrics, Wakayama Medical College, Wakayama City, Japan. kobayashi@mail.wakayama-med.ac.jp
Koike
M
M
Sakiyama
M
M
Okuda
S
S
Okuda
M
M
Tanaka
T
T
Unno
A
A
Nittono
H
H
Takei
H
H
Murai
T
T
Yoshimura
T
T
Kurosawa
T
T
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000328:Adult; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D019826:Cholic Acid / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D013251:Steroid Isomerases / Q000172:deficiency; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use; D014813:Vitamin K Deficiency / Q000175:diagnosis
D002635:Chenodeoxycholic Acid; D014580:Ursodeoxycholic Acid; D015096:3-Hydroxysteroid Dehydrogenases; D013251:Steroid Isomerases; D019826:Cholic Acid