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.

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

NIEMANN PICK C

Políticas públicas para doenças raras: o que são e como funcionam? - Blog Mendelics

Diferenças entre exames genéticos: Painel, Exoma, e Doenças mitocondriais - Blog Mendelics

Niemann-Pick disease type C: Video & Anatomy

Niemann-Pick disease type C: Video & Anatomy

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

PDF) Understanding and Treating Niemann–Pick Type C Disease: Models Matter

Niemann-Pick tipo C - Blog Mendelics

Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library

Abracadabra - Inteligência artificial nas análises genéticas

Doenças renais genéticas - Blog Mendelics

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease