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.

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

Combination therapy a potential strategy for treating Niemann-Pick disease

2020: Notícias do ano na Ciência - Blog Mendelics

White and gray matter alterations in adults with Niemann-Pick disease type C

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family, BMC Neurology

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

Dúvidas frequentes sobre exames de diagnóstico genético - Blog Mendelics

Niemann-Pick disease type C

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

Frontiers Lysosomal and Mitochondrial Liaisons in 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