Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II

Published:2010-09 Issue:3 Volume:19 Page:184-186
ISSN:1052-9551
Container-title:Diagnostic Molecular Pathology
language:en
Short-container-title:Diagnostic Molecular Pathology

Author:

Lee Han-Chih Hencher,Lai Chi-Kong,Siu Tak-Shing,Yuen Yuet-Ping,Chan Kwok-Yin,Chan Albert Yan-Wo,Tam Sidney,Mak Chloe Miu,Lam Ching-Wan

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cell Biology,Molecular Biology,Pathology and Forensic Medicine

Reference10 articles.

1. The Metabolic Autopsy Comes of Age

2. Glutaric Acidemia Type II: Heterogeneity of Clinical and Biochemical Phenotypes

3. Electron transfer flavoprotein deficiency: Functional and molecular aspects

4. Late-onset multiple acyl-CoA dehydrogenase deficiency: A frequently missed diagnosis?

5. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Cited by 13 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. Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong;Cureus;2024-06-13

2. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES);Journal of Laboratory Medicine;2021-11-04

3. Infant death from glutaric aciduria type IIc;Forensic Science International: Reports;2021-07

4. Prenatal and foetal autopsy findings in glutaric aciduria type II;Birth Defects Research;2020-09-22

5. Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study;Journal of Inherited Metabolic Disease;2019-07-17

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