The impact of vanishing white matter on unaffected family members
Abstract Background Vanishing White matter (VWM) is one of the more prevalent leukodystrophies, caused by biallelic pathogenic variants in any of the EIF2B1–5 genes. It is characterized by chronic progressive neurological deterioration and additional stress-provoked episodes of rapid decline, leadin...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2025-08-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s13023-025-03987-8 |
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