Niemann-Pick tipo C - Blog Mendelics

Entenda a doença Niemann-Pick tipo C, suas causas, sintomas e a importância dos testes genéticos para o diagnóstico da condição.

2020: Notícias do ano na Ciência - Blog Mendelics

Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

Doenças renais genéticas - Blog Mendelics

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos

Neiman pick disease Type C – Classical morphology

Niemann-Pick Disease

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos

Alterações genéticas: Glossário de genética III - Blog Mendelics

Niemann-Pick disease type C: Video & Anatomy

Adult onset Niemann-Pick disease type C presenting with psychosis