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

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Histopathological liver biopsy findings. Hematoxylin and eosin staining

PDF) Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Niemann-Pick disease type C

Niemann-Pick Disease Type C - cyclotherapeutics

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

Niemann-Pick Disease Type C, A Rare Cause of Pancytopenia: A Case Report

Estimated prevalence of Niemann–Pick type C disease in Quebec

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Lipid trafficking defects in Niemann-Pick type C disease

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1