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Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of thi...

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Detalles Bibliográficos
Autores principales:	Szymańska, Edyta, Jezela-Stanek, Aleksandra, Bogdańska, Anna, Rokicki, Dariusz, Ehmke vel Emczyńska-Seliga, Ewa, Pajdowska, Magdalena, Ciara, Elżbieta, Tylki-Szymańska, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598207/ https://www.ncbi.nlm.nih.gov/pubmed/32977617 http://dx.doi.org/10.3390/diagnostics10100738

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