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

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

SciELO - Brasil - Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study

Frontiers Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review

Lipid trafficking defects in Niemann-Pick type C disease

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

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

New variants in Spanish Niemann–Pick type c disease patients

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

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study

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

New variants in Spanish Niemann–Pick type c disease patients

PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)