Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review
Abstract Background Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset.The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinical presentation of the disease.NP-C Suspicion Index (SI) was developed to aid screening and identification of patients with