First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant
Abstract Background Glutaric acidemia type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited error of amino acid and fatty acid metabolism. Its clinical manifestations can vary from severe events that threaten the life of a newborn to milder and late mani...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2025-11-01
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| Col·lecció: | Orphanet Journal of Rare Diseases |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13023-025-04107-2 |
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