Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations

Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor proportion. We recently diagnosed two cases of GA I...

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Hlavní autoři: Park, June Dong, Lim, ByungChan, Kim, Ki Joong, Hwang, Yong Seung, Kim, Seung Ki, Kang, Seong-Ho, Cho, Sung Im, Park, Sung Sup, Lee, Joon Soo, Chae, Jong Hee
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Academy of Medical Sciences 2010
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2877240/
https://ncbi.nlm.nih.gov/pubmed/20514322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.6.957
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