Diagnostic and predictive methods for a Niemann-Pick disease type

Cureus, Niemann-Pick Disease: An Approach for Diagnosis in Adulthood

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study – topic of research paper in Clinical medicine. Download

Niemann-Pick Disease Concise Medical Knowledge

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study, Orphanet Journal of Rare Diseases

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

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

PDF) Genetic and laboratory diagnostic approach in Niemann Pick disease type C

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases

Protocol for initiation of miglustat treatment in NP-C. Reproduced with

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals