Diagnostic and predictive methods for a Niemann-Pick disease type

Precision health in Alzheimer disease: Risk assessment‐based strategies - Azar - 2021 - Precision Medical Sciences - Wiley Online Library

PDF) Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review

Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency - Genetics in Medicine

Niemann-Pick disease type C

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

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