Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
Drug‐induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann–Pick type C cells and mice
PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
JCM, Free Full-Text
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients, BMC Medical Genetics
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. - Abstract - Europe PMC
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
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
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