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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
MDPI AG
2018-01-01
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| Σειρά: | International Journal of Neonatal Screening |
| Θέματα: | |
| Διαθέσιμο Online: | http://www.mdpi.com/2409-515X/4/1/7 |
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