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

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.

Source: Orphanet Journal of Rare Diseases - February 12, 2021 Category: Internal Medicine Authors: Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel and Tara Symonds Tags: Research Source Type: research