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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Bibliographic Details
Published in:Int J Neonatal Screen
Main Authors: Schlune, Andrea, Riederer, Anselma, Mayatepek, Ertan, Ensenauer, Regina
Format: Artigo
Language:Inglês
Published: MDPI 2018
Subjects:
Review
Online Access: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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