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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 6, 2023. (Total: 223792Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency[original query]
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
The New England journal of medicine 2003 Jun 348 (23): 2304-12.
Wilcken Bridget, Wiley Veronica, Hammond Judith, Carpenter Kev
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
Pediatrics international : official journal of the Japan Pediatric Society 2019 4 61 (6): 551-557.
Li Yanhan, Zhu Ruoxin, Liu Yi, Song Jinqing, Xu Jing, Yang Yanli
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
Clinica chimica acta; international journal of clinical chemistry 2022 9 536 155-161.
Tian Yuan, Zhu Xinyun, Lv Shubo, Jia Chenlu, Zhang Linlin, Ni Min, Xu Yizhuo, Peng Rui, Liu Suna, Zhao Deh
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