Niemann-Pick disease type C Alzheimer Society of Canada
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Descrição
Niemann-Pick disease type C is a very rare, inherited neurodegenerative disease that results from an abnormal processing in body tissues of fatty substances (lipids), particularly cholesterol.
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
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study
Late-onset Niemann–Pick disease type C overlapping with frontotemporal dementia syndromes: a case report
The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Niemann-Pick disease type C Alzheimer Society of Canada
Dermatologic Manifestations of Niemann-Pick Disease: Background, Pathophysiology, Etiology
Modeling Brain Pathology of Niemann‐Pick Disease Type C Using Patient‐Derived Neurons - Burbulla - 2021 - Movement Disorders - Wiley Online Library
Estimated prevalence of Niemann–Pick type C disease in Quebec
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