Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
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Last updated 27 março 2025

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

Consensus clinical management guidelines for Niemann-Pick disease type C. - Abstract - Europe PMC

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

PDF] Efficient Investigation and Differential Diagnosis of Childhood Onset Niemann-Pick Type C

IJMS, Free Full-Text

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report, BMC Neurology

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

Niemann–Pick disease, type C - Wikipedia

SciELO - Brasil - Niemann-Pick disease type C: a case series of Brazilian patients Niemann-Pick disease type C: a case series of Brazilian patients

PDF] Efficient Investigation and Differential Diagnosis of Childhood Onset Niemann-Pick Type C

Biophysical impact of sphingosine and other abnormal lipid accumulation in Niemann-Pick disease type C cell models - ScienceDirect

Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test - ScienceDirect

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

Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test - ScienceDirect

Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
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