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Isovaleric Acidemia: New Aspects of Genetic and Phenotypic Heterogeneity
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized in humans and can...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2006
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2652706/ https://ncbi.nlm.nih.gov/pubmed/16602101 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30089 |
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