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Molecular Genetics & Genomic Medicine|May 23, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosisTroy C Lund, Weston P Miller, Julie B Eisengart, et al.Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.Journal of Inherited Metabolic Disease|June 25, 2013
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestationsJames E Wraith, Frédéric Sedel, Mercèdes Pineda, et al.American Journal of Medical Genetics|July 13, 2002
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7Rong Mao, Arthur S Aylsworth, Nicholas Potter, et al.Journal of Neuro-Oncology|January 3, 2025
Bevacizumab exerts dose-dependent risk for intracranial hemorrhage in patients with malignant gliomasSanghee Lim, Nathan H Clarke, Sara L Maloney, et al.Pediatric Neurology|August 8, 2018
Jeavons Syndrome: Clinical Features and Response to TreatmentKelsey M Smith, Paul E Youssef, Elaine C Wirrell, et al.Journal of Inherited Metabolic Disease|April 24, 2020
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational studyMarc C Patterson, William S Garver, Robert Giugliani, et al.The American Journal of Surgical Pathology|February 19, 2021
Diffuse Gliomas of the Brainstem and Cerebellum in Adults Show Molecular HeterogeneityKathryn L Eschbacher, Cristiane M Ida, Derek R Johnson, et al.Communications Medicine|February 10, 2026
Assessments of social vulnerability on central nervous system cancer disparities in the United StatesDavid J Fei-Zhang, Salim C Lutfallah, Joshua Mensah, et al.Molecular Genetics and Metabolism|August 4, 2009
Recommendations on the diagnosis and management of Niemann-Pick disease type C, James E Wraith, Matthias R Baumgartner, et al.Pageof 16