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.

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Niemann-Pick disease type C: Video & Anatomy

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Alterações genéticas: Glossário de genética III - Blog Mendelics

Niemann-Pick Disease, Types C1 (D)

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

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect

Neurogenética: exames genéticos para diagnóstico - Blog Mendelics

Niemann–Pick disease - Wikipedia

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

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

PDF) The pathogenesis of Niemann-Pick type C disease: A role for autophagy?

Mendelics para pesquisa - Blog Mendelics