Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: Results for 10 years in Japan-Reference-Cited by-同舟云学术

Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: Results for 10 years in Japan

Published:2009-08 Issue:4 Volume:51 Page:535-543
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:

Author:

Nittono Hiroshi,Takei Hajime,Unno Atsushi,Kimura Akihiko,Shimizu Toshiaki,Kurosawa Takao,Tohma Sadahiko,Une Mizuho

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.2008.02799.x/fullpdf

Reference26 articles.

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2. Cerebrotendinous xanthomatosis: A defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid;Oftebro;J. Clin. Invest,1980

3. Familial giant cell hepatitis associated with synthesis of 3beta, 7alpha-dihydroxy- and 3beta, 7alpha, 12alpha-trihydroxy-5-cholenic acids;Clayton;J. Clin. Invest,1987

4. Δ4-3-oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis;Setchell;J. Clin. Invest,1988

5. Abnormal bile acids in the Smith-Lemli-Opitz syndrome;Natowicz;Am. J. Med. Genet,1994

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