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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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Detalhes bibliográficos
Publicado no:Diagnostics (Basel)
Main Authors: Szymańska, Edyta, Jezela-Stanek, Aleksandra, Bogdańska, Anna, Rokicki, Dariusz, Ehmke vel Emczyńska-Seliga, Ewa, Pajdowska, Magdalena, Ciara, Elżbieta, Tylki-Szymańska, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7598207/
https://ncbi.nlm.nih.gov/pubmed/32977617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10100738
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