Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC

The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale OneFile: Health and Medicine

PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Lysosomal-specific Cholesterol Reduction by Biocleavable Polyrotaxanes for Ameliorating Niemann-Pick Type C Disease

Very Late‐Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look‐Alike Disorder - Kresojević - 2020 - Movement Disorders Clinical Practice - Wiley Online Library

Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - ScienceDirect

Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. - Abstract - Europe PMC

Frontiers npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities - Gustavo H.B. Maegawa, 2019