Therapeutic intervention for Niemann–Pick type C disease must target
Por um escritor misterioso
Last updated 25 abril 2025


Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases

Gene therapy shows promise for treating Niemann-Pick disease type C1
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Investigation of 2-Hydroxypropyl-β-Cyclodextrin Treatment in a Neuronal-Like Cell Model of Niemann–Pick Type C Using Quantitative Proteomics

IJMS, Free Full-Text

Cureus, Niemann-Pick Disease: A Case Report and Literature Review

NPC1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP46A1 activation

Niemann-Pick Disease, A Pipeline Analysis Report 2018, Technavio

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Experimental treatment for Niemann-Pick disease type C1 appears safe, effective
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