SciELO - Brasil - Niemann-Pick disease type C: a case series of Brazilian patients Niemann-Pick disease type C: a case series of Brazilian patients

The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease

New variants in Spanish Niemann–Pick type c disease patients

SciELO - Brasil - Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele Distinct Niemann-Pick Disease Type C Clinical, Cytological, and

White and gray matter alterations in adults with Niemann-Pick disease type C

Niemann-Pick disease type C

Niemann–Pick disease type C1 (NPC1) is associated with early-onset

PDF) Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: A case report

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

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

SciELO - Brasil - Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in

Adult onset Niemann–Pick type C disease: Two different presentations