Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
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Last updated 26 dezembro 2024
Semantic Scholar extracted view of "Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test." by M. Vanier et al.
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect
Niemann–Pick Disease Type C: Induced Pluripotent Stem Cell–Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy - Daozhan Yu, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan
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
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Consensus clinical management guidelines for Niemann-Pick disease type C. - Abstract - Europe PMC
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC
Laboratory diagnosis algorithm. Footnote: This algorithm is as proposed
Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O, Orphanet Journal of Rare Diseases
Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test - ScienceDirect
IJMS, Free Full-Text
New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Frontiers npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease
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