Niemann-Pick disease type C as a neurovisceral disease. Schematic
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Niemann-Pick disease type C
Niemann-Pick disease type C as a neurovisceral disease. Schematic
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review - Hwang - 2023 - JIMD Reports - Wiley Online Library
Lithium ameliorates Niemann-Pick C1 disease phenotypes by impeding STING/SREBP2 activation - ScienceDirect
Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library
Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Niemann-Pick disease type C
Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study
mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts
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