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

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

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients, BMC Medical Genetics

Niemann-Pick type C disease: The atypical sphingolipidosis. - Abstract - Europe PMC

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

PDF) Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

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

Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain

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

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism