Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of the leucine metabolism that is caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD). Recent application of tandem mass spectrometry to newborn screening has allowed a significant expansion of the recognition of individuals w...

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Bibliographische Detailangaben
Hauptverfasser: Lee, Yong-Wha, Lee, Dong Hwan, Vockley, Jerry, Kim, Nam-Doo, Lee, You Kyoung, Ki, Chang-Seok
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2007
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4136440/
https://ncbi.nlm.nih.gov/pubmed/17576084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2007.05.003
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