SRD5B1gene analysis needed for the accurate diagnosis of primary 3-oxo-Δ4-steroid 5β-reductase deficiency-Reference-Cited by-同舟云学术

SRD5B1gene analysis needed for the accurate diagnosis of primary 3-oxo-Δ4-steroid 5β-reductase deficiency

Published:2009-05 Issue:5 Volume:24 Page:776-785
ISSN:0815-9319
Container-title:Journal of Gastroenterology and Hepatology
language:en
Short-container-title:

Author:

Ueki Isao,Kimura Akihiko,Chen Huey-Ling,Yorifuji Tohru,Mori Jun,Itoh Susumu,Maruyama Kenichi,Ishige Takashi,Takei Hajime,Nittono Hiroshi,Kurosawa Takao,Kage Masayoshi,Matsuishi Toyojiro

Publisher

Wiley

Subject

Gastroenterology,Hepatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1746.2008.05669.x/fullpdf

Reference20 articles.

1. Δ4-3-Oxosteroid 5β-reductase deficiency causing neonatal liver failure and hemochromatosis;Shneider;J. Pediatr.,1994

2. Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis;Siafakas;J. Pediatr. Gastroenterol. Nutr.,1997

3. Urinary 7α-hydroxy-3-oxochol-4-en-24-oic and 3-oxochola-4,6-dien-24-oic acids in infants with cholestasis;Kimura;J. Hepatol.,1998

4. Increased urinary excretion of 3-oxo-Δ4 bile acids in Japanese patients with idiopathic neonatal cholestasis;Kimura;J. Pediatr. Gastroenterol. Nutr.,1998

5. Δ4-3-Oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis;Setchell;J. Clin. Invest.,1988

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