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

PDF) Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

PDF) Niemann - Pick Disease Type B: A Case Report

IJNS, Free Full-Text

IJNS, Free Full-Text

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

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

IJERPH June-2 2021 - Browse Articles

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

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

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia - ScienceDirect

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 perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia - ScienceDirect

IJMS, Free Full-Text

Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements