Diagnostic and predictive methods for a Niemann-Pick disease type

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.

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

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management

JCM, Free Full-Text

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

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

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

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

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