IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
Hori, D; Hasegawa, Y; Kimura, M; Yang, YL; Verma, IC; Yamaguchi, S
关键词Organic Acidemia Gc/ms Clinical Onset Outcome Newborn Screening
刊名BRAIN & DEVELOPMENT
2005
DOI10.1016/j.braindev.2004.04.004
27期:1页:39-45
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]FATTY-ACID ; FILTER-PAPER ; SPECTROMETRY ; DISORDERS ; METABOLISM ; AMINO
英文摘要

Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases). For these 188 patients, onset was most frequent in the neonatal period or early infancy. Approximately 30% of the patients had a family history of similar symptoms or diseases. Although the outcome of OA patients varied, patients with early onset generally had poor outcomes despite early detection. Of the 45 MMA patients whose clinical data were available, 25 were clinically vitamin B12-responsive, while the remaining 20 were non-responsive. A favorable outcome was obtained in 7 of the 25 B12-responsive patients, and in only 3 of the 20 B12-nonresponsive patients. It was suggested that even in B12-responsive NIMA cases, earlier detection and B12 therapy were needed to improve the prognosis. We concluded that detection of such patients at the presymptomatic stages using newborn mass screening is essential for prognosis improvement with OAs. (C) 2004 Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000226539400008
引用统计
被引频次:41[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/400002259/55253
专题北京大学第一临床医学院_儿科
作者单位1.Shimane Univ, Fac Med, Dept Pediat, Izumo, Shimane 6938501, Japan
2.Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
3.Sir Ganga Ram Hosp, Dept Med Genet, New Delhi, India
推荐引用方式
GB/T 7714
Hori, D,Hasegawa, Y,Kimura, M,et al. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening[J]. BRAIN & DEVELOPMENT,2005,27(1):39-45.
APA Hori, D,Hasegawa, Y,Kimura, M,Yang, YL,Verma, IC,&Yamaguchi, S.(2005).Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.BRAIN & DEVELOPMENT,27(1),39-45.
MLA Hori, D,et al."Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening".BRAIN & DEVELOPMENT 27.1(2005):39-45.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Hori, D]的文章
[Hasegawa, Y]的文章
[Kimura, M]的文章
百度学术
百度学术中相似的文章
[Hori, D]的文章
[Hasegawa, Y]的文章
[Kimura, M]的文章
必应学术
必应学术中相似的文章
[Hori, D]的文章
[Hasegawa, Y]的文章
[Kimura, M]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。