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

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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Bibliographic Details
Main Authors: Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Diagnostics
Subjects:
isovaleric acidemia
newborn screening
dietary management
organic acidurias
<i>IVD</i> gene
mild phenotype
Online Access:https://www.mdpi.com/2075-4418/10/10/738

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https://www.mdpi.com/2075-4418/10/10/738

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