Diagnostic and predictive methods for a Niemann-Pick disease type
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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
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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease type C – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Frontiers Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect
Niemann Pick disease
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
PDF) The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder
Cureus, Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
Figure 4 from Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
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