Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review
Abstract Background Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far. The majority of neurodevelopmental disorders has a genetic cause and there is a big overlap of...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2025-03-01
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| coleção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13023-025-03606-6 |
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