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Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale

BACKGROUND: Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. The Niemann-Pick type C Clinical Severity Scale (NPCCSS) is a 17 domain, disease-specific...

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Detalles Bibliográficos
Autores principales:	Patterson, Marc C., Lloyd-Price, Lucy, Guldberg, Christina, Doll, Helen, Burbridge, Claire, Chladek, Michael, íDali, Christine, Mengel, Eugen, Symonds, Tara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881637/ https://www.ncbi.nlm.nih.gov/pubmed/33579322 http://dx.doi.org/10.1186/s13023-021-01719-2

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