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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...
Guardado en:
| Publicado en: | Diagnostics (Basel) |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | 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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