Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Semantic Scholar extracted view of "Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test." by M. Vanier et al.

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability - ScienceDirect

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

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

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

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect

PDF) Review Niemann-Pick disease type C

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

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

Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test - ScienceDirect

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

PDF] Efficient Investigation and Differential Diagnosis of Childhood Onset Niemann-Pick Type C

PDF) Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

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Investigation of 2-Hydroxypropyl-β-Cyclodextrin Treatment in a Neuronal-Like Cell Model of Niemann–Pick Type C Using Quantitative Proteomics