Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
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Last updated 15 abril 2025

Semantic Scholar extracted view of "Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test." by M. Vanier et al.

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability - ScienceDirect

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

Niemann–Pick disease, type C - Wikipedia

Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C Corrigendum in /10.3892/br.2018.1156

New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation

Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry - ScienceDirect

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC

Niemann–Pick Disease Type C: Induced Pluripotent Stem Cell–Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy - Daozhan Yu, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC

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