3β-Hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman

Pediatrics International

Volumn 42, Issue 6, 2000, Pages 685-688

  Kobayashi, Masakazu ^a   Koike, Michio ^a   Sakiyama, Michiyo ^a   Okuda, Shuuji ^a   Okuda, Masumi ^a   Tanaka, Tomoyuki ^a   Unno, Atushi ^b   Nittono, Hiroshi ^c   Takei, Hajime ^d   Murai, Tsuyoshi ^e   Yoshimura, Teruki ^e   Kurosawa, Takao ^e  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Junshin Clinic   (Japan)

^d Tokyo Association of Health Service   (Japan)

^e HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

3 hydroxy 5 C27 steroid dehydrogenase isomerase deficiency; Adult; Follow up; Treatment

Indexed keywords

3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE; CHENODEOXYCHOLIC ACID; CHOLIC ACID; ISOMERASE; URSODEOXYCHOLIC ACID; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; STEROID DELTA ISOMERASE;

ADULT; ARTICLE; CASE REPORT; CHRONIC DISEASE; CLINICAL EXAMINATION; CLINICAL FEATURE; ENZYME DEFICIENCY; EPISTAXIS; FEMALE; FOLLOW UP; HUMAN; JAUNDICE; LABORATORY DIAGNOSIS; LIVER BIOPSY; LIVER INJURY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; INBORN ERROR OF METABOLISM; LIVER; LIVER CIRRHOSIS; PATHOLOGY; VITAMIN K DEFICIENCY;

3-HYDROXYSTEROID DEHYDROGENASES; ADULT; CHENODEOXYCHOLIC ACID; CHOLIC ACID; FEMALE; HUMANS; LIVER; LIVER CIRRHOSIS; METABOLISM, INBORN ERRORS; STEROID ISOMERASES; URSODEOXYCHOLIC ACID; VITAMIN K DEFICIENCY;

EID: 18044365386     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2000.01292.x     Document Type: Article

References (6)

1. Familial giant cell hepatitis associated with synthesis of 3β, 7α-dihydroxy- and 3β, 7α, 12α-trihydroxy-5-cholenoic acids
2. 5-bile acids
3. 27-steroid dehydrogenase deficiency with chenodeoxycholic acid
4. 27-steroid dehydrogenase deficiency: Effects of chenodeoxycholic acid treatment
5. 27-steroid dehydrogenase/isomerase deficiency
6. 27-steroid dehydrogenase/isomerase deficiency in Japan