Art

J-GLOBAL ID：200902241321539415   Reference number：09A0834013

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 10years in Japan

ガスクロマトグラフィー-質量分析を用いた尿中胆汁酸の分析に基づく先天性胆汁酸代謝異常についてのハイリスクスクリーニングのための診断的測定システム 日本での10年間の結果

Author (11)： NITTONO Hiroshi (Junshin Clinic) ,  NITTONO Hiroshi (Juntendo Univ. School of Medicine, Tokyo) ,  TAKEI Hajime (Junshin Clinic) ,  TAKEI Hajime (Juntendo Univ. School of Medicine, Tokyo) ,  UNNO Atsushi (Junshin Clinic) ,  UNNO Atsushi (Juntendo Univ. School of Medicine, Tokyo) ,  KIMURA Akihiko (Kurume Univ. School of Medicine, Fukuoka) ,  SHIMIZU Toshiaki (Juntendo Univ. School of Medicine, Tokyo) ,  KUROSAWA Takao (Health Sci. Univ. Hokkaido, Hokkaido) ,  TOHMA Sadahiko (Health Sci. Univ. Hokkaido, Hokkaido) ,  UNE Mizuho (Hiroshima International Univ., Hiroshima, JPN)
Material： Pediatrics International  (Pediatr Int)
Volume： 51  Issue： 4  Page： 535-543  Publication year： Aug. 2009 
JST Material Number： W1358A  ISSN： 1328-8067  Document type： Article
Article type： 原著論文  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： pediatrics ,...
Semi thesaurus term： *先天性胆汁酸代謝異常症

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JST classification (2)： Pediatric diagnosis  (GC08030X) ,  Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U)

Reference (26)：

• EYSSEN, H. Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies. Biochim. Biophys. Acta. 1972, 273, 212-221
• OFTEBRO, H. Cerebrotendinous xanthomatosis : A defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J. Clin. Invest. 1980, 65, 1418-1430
• CLAYTON, PT. Familial giant cell hepatitis associated with synthesis of 3beta, 7alpha-dihydroxy- and 3beta, 7alpha, 12alpha-trihydroxy-5-cholenic acids. J. Clin. Invest. 1987, 79, 1031-1038
• SETCHELL, KDR. Δ^4-3-oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J. Clin. Invest. 1988, 82, 2148-2157
• NATOWICZ, MR. Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 1994, 50, 364-367

Terms in the title (8)： ガスクロマトグラフィー-質量分析 ,  尿 ,  胆汁酸 ,  分析 ,  代謝異常 ,  診断 ,  測定システム ,  日本