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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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Detalles Bibliográficos
Autores principales:	Schlune, Andrea, Riederer, Anselma, Mayatepek, Ertan, Ensenauer, Regina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548899/ https://www.ncbi.nlm.nih.gov/pubmed/33072933 http://dx.doi.org/10.3390/ijns4010007

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