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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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| Publié dans: | Diagnostics (Basel) |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
MDPI
2020
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| Sujets: | |
| Accès en ligne: | 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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