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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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| Udgivet i: | Int J Neonatal Screen |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7548899/ https://ncbi.nlm.nih.gov/pubmed/33072933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns4010007 |
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