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Article

Glutaric aciduria type 1 in Korea: report of two novel mutations.

Journal of Korean medical science - 1 Jun 2010

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

Abstract excerpt

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 G...

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Identifiers

PMID: 20514322
DOI: 10.3346/jkms.2010.25.6.957
PMCID: PMC2877240

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20514322-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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