Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills
Abstract Background This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes. Methods We performed a single-center cross sectional data collection along with retros...
| Autores principales: | , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | English |
| Publicado: |
BMC
2024-12-01
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| Colección: | Orphanet Journal of Rare Diseases |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1186/s13023-024-03448-8 |