Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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Last updated 23 dezembro 2024
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale OneFile: Health and Medicine
JCM, Free Full-Text
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
Frontiers npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. - Abstract - Europe PMC
Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale Academic OneFile
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
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