Diagnostic and predictive methods for a Niemann-Pick disease type

Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts

Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - Top Articles selected by the Editor - Molecular Genetics and Metabolism Reports - Journal - Elsevier

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

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Niemann-Pick Disease, Types A and B

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet

Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases

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

Niemann-Pick disease - Breda Genetics srl Breda Genetics srl

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

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

IJMS, Free Full-Text

Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

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