Aspects of Newborn Screening in Isovaleric Acidemia
Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inc...
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| Main Authors: | , , , |
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| Format: | Book |
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MDPI AG,
2018-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |