Niemann-Pick tipo C - Blog Mendelics
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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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Doenças renais genéticas - Blog Mendelics
A new regulatory mechanism of STARD1 in Niemann-Pick disease type C (NPC), discovered
Niemann–Pick disease type C1 (NPC1) is associated with early-onset
Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library
Niemann-Pick tipo C - Blog Mendelics
Triagem genética e diagnóstico genético - Blog Mendelics
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
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
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