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Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center
Zhang, CH; Xu, KM; Dave, UP; Wang, Y; Matsumoto, I
关键词Inborn Errors Of Metabolism Gc-ms
刊名JOURNAL OF CHROMATOGRAPHY B
2000-09-01
746期:1页:41-49
收录类别ISTP ; SCI
文章类型Proceedings Paper
WOS标题词Science & Technology
类目[WOS]Biochemical Research Methods ; Chemistry, Analytical
研究领域[WOS]Biochemistry & Molecular Biology ; Chemistry
关键词[WOS]GAS-CHROMATOGRAPHY ; MASS-SPECTROMETRY ; CANAVAN DISEASE ; DISORDERS ; ACIDURIA ; ACIDS
英文摘要

To heighten the effectiveness of chemical diagnosis for inborn errors of metabolism (IEM) using urease pretreatment and GC-MS analysis, a sample collection and transportation method was contrived. The resulting "filter paper set" allows simple urine collection and transportation, and enables anyone from anywhere to receive the GC-MS analysis without the limitations of place or time. Using filter paper sets, high-risk screening of undiagnosed children or mentally retarded children with unknown cause was conducted in cooperation with hospitals and universities in several Asian countries. During 8 months 203 patients from China and India were analyzed and 20 cases of IEM were chemically diagnosed. These diagnoses greatly contributed to the treatment of children with intractable diseases who lived in Asian countries where analytical techniques and facilities for IEM were not sufficient. (C) 2000 Elsevier Science B.V. All rights reserved.

语种英语
WOS记录号WOS:000089285100007
引用统计
被引频次:14[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56591
专题北京大学第一临床医学院
作者单位1.Matsumoto Inst Life Sci, Kanazawa, Ishikawa 9200222, Japan
2.Capital Inst Pediat, Beijing, Peoples R China
3.CREMERE, Mumbai, India
4.Beijing Med Univ, Hosp 1, Beijing 100083, Peoples R China
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GB/T 7714
Zhang, CH,Xu, KM,Dave, UP,et al. Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center[J]. JOURNAL OF CHROMATOGRAPHY B,2000,746(1):41-49.
APA Zhang, CH,Xu, KM,Dave, UP,Wang, Y,&Matsumoto, I.(2000).Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center.JOURNAL OF CHROMATOGRAPHY B,746(1),41-49.
MLA Zhang, CH,et al."Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center".JOURNAL OF CHROMATOGRAPHY B 746.1(2000):41-49.
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