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Molecular Genetics and Metabolism|November 19, 2025
Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1Forbes D Porter, Derek M Alexander, Orsolya K Albert, et al.
Diseases (Basel, Switzerland)|September 22, 2017
Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1Meghann W Lau, Ryan W Lee, Robin Miyamoto, et al.
Pediatric Neurology|February 13, 2018
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-CyclodextrinElizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.
Orphanet Journal of Rare Diseases|December 2, 2016
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseSteven U Walkley, Cristin D Davidson, Jonathan Jacoby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
Neurofilament light chain levels correlate with clinical measures in CLN3 diseaseAn N Dang Do, Ninet Sinaii, Ruturaj R Masvekar, et al.
Human Molecular Genetics|November 1, 2016
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1Randy J Chandler, Ian M Williams, Alana L Gibson, et al.
Orphanet Journal of Rare Diseases|September 5, 2022
Phenotypic expression of swallowing function in Niemann-Pick disease type C1Beth I Solomon, Andrea M Muñoz, Ninet Sinaii, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2009
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of HealthLouise S Merkens, Christopher Wassif, Kristy Healy, et al.
Journal of Inherited Metabolic Disease|February 7, 2021
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measuresMyriam Abdennadher, Sara Inati, Ariane Soldatos, et al.
Molecular Genetics and Metabolism|July 16, 2013
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage diseaseJorge L Rodriguez-Gil, Denise M Larson, Christopher A Wassif, et al.
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