Niemann–Pick Disease Type C

Niemann-Pick disease type C (NPC) is a disabling, lysosomal-storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C

Niemann-Pick Disease Type C

Recent advances in the treatment of Niemann pick disease type C: A mini-review - ScienceDirect

Niemann–Pick Disease Type C

Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases

Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1 - ScienceDirect

Patient with Niemann-Pick disease type C: over 20 years' follow-up

Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology

Niemann-Pick disease type C

Adult onset Niemann-Pick disease type C presenting with psychosis