Diagnostic and predictive methods for a Niemann-Pick disease type

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

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Niemann-Pick disease Information

(PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

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

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

Niemann-Pick disease types A and B (NORD): Video

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

Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library

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

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

Niemann Pick Disease Type C - Symptoms, Causes, Treatment