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Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.Orphanet Journal of Rare Diseases|May 13, 2021
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)Paul Gissen, Nicola Specchio, Andrew Olaye, et al.Journal of Child Neurology|December 28, 2020
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case SeriesEva Wibbeler, Raymond Wang, Emily de Los Reyes, et al.The Lancet. Neurology|December 15, 2023
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension studyAngela Schulz, Nicola Specchio, Emily de Los Reyes, et al.Pageof 2