Associated Papers
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
Hopf S et al.
Plos One, 2021
34086834 (PubMed )
Supplement: pone.0252825.s001.pdf
Activation of mammalian terget of rapamycin kinase and glycogen synthase kinase-3β accompanies abnormal accumulation of cholesterol in fibroblasts from Niemann-Pick type C patients.
Wos M et al.
Journal of Cellular Biochemistry, 2019
Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease.
Woś M et al.
Archives of Biochemistry and Biophysics, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
26981555 (PubMed )
Supplement: mmc1.pdf
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Stampfer M et al.
Orphanet Journal of Rare Diseases, 2013
A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.
Jamrozik Z et al.
Neurologia I Neurochirurgia Polska, 0
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 0
36264126 (PubMed )
Supplement: supplement_1.docx
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