3β-hydroxy-Δ⁵-C₂₇-steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants.
Junshin Clinic Bile Acid Institute, Tokyo, Japan. bile-res@eco.ocn.ne.jp
Hiroshi
H
Nittono
Hajime
H
Takei
Atsushi
A
Unno
Toshiaki
T
Shimizu
Masakazu
M
Kobayashi
Michio
M
Koike
Tsuyoshi
T
Murai
Takao
T
Kurosawa
Masahiko
M
Thoma
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000284:Administration, Oral; D002635:Chenodeoxycholic Acid / Q000008:administration & dosage* / Q000652:urine; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000628:therapy; D014580:Ursodeoxycholic Acid / Q000008:administration & dosage* / Q000652:urine
D002635:Chenodeoxycholic Acid; D014580:Ursodeoxycholic Acid; D015096:3-Hydroxysteroid Dehydrogenases; C066485:3 beta-hydroxy-delta 5-C(27)-steroid dehydrogenase