Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications

Published:2010-06-22 Issue:S3 Volume:33 Page:263-267
ISSN:1573-2665
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Al-Hassnan Zuhair N.,Imtiaz Faiqa,Al-Amoudi Mohamed,Rahbeeni Zuhair,Al-Sayed Moeen,Al-Owain Mohammed,Al-Zaidan Hamad,Al-Odaib Ali,Rashed Mohamed S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-010-9143-1

Reference15 articles.

1. Andresen BS, Dobrowolski SF, O’Reilly L et al (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68:1408–1418

2. Chace DH, Hillman SL, van Hove JLK, Naylor EW (1997) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 43:2106–2113

3. Dean FB, Hosono S, Fang L et al (2002) Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA 99:5261–5266

4. Divry P, David M, Gregersen N et al (1983) Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect: a cause of hypoglycemia in childhood. Acta Paediatr Scand 72:943–949

5. Ensenauer R, Winters JL, Parton PA et al (2005) Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genet Med 7:339–343

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots;International Journal of Molecular Sciences;2023-06-02

2. Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province;Journal of Zhejiang University (Medical Sciences);2022-06-01

3. Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers;Human Mutation;2021-12-30

4. Inherited Metabolic Disorders in Adults: A view from Saudi Arabia;European Journal of Medical Genetics;2019-11

5. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation;Molecular Genetics and Metabolism;2016-12

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3