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.

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

5 Most Promising Companies offering hope to patients with Niemann-Pick Type C

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

Niemann-Pick Disease

Alterações genéticas: Glossário de genética III - Blog Mendelics

IJMS, Free Full-Text

Arquivos Doenças e Exames - Blog Mendelics

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene

Atrofia Muscular Espinhal: impacto da genômica em 130 anos - Blog Mendelics

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management

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

Molecular dynamics study with mutation shows that N‐terminal domain structural re‐orientation in Niemann‐Pick type C1 is required for proper alignment of cholesterol transport - Yoon - 2021 - Journal of Neurochemistry