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

Internet

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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