Diagnostic and predictive methods for a Niemann-Pick disease type
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Niemann-Pick disease Information
Niemann-Pick Disease Concise Medical Knowledge
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management
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
Development of a bile acid–based newborn screen for Niemann-Pick disease type C
Logistic prediction function of the positive predictive value for the
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Niemann Pick disease
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Cureus, Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
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