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BMC Women'S Health|October 28, 2004
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failureAnne Fogli, Fernande Gauthier-Barichard, Raphael Schiffmann, et al.Orphanet Journal of Rare Diseases|April 11, 2025
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairmentRaphael Schiffmann, James Turnbull, Robert Krupnick, et al.Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.The Journal of Biological Chemistry|April 24, 2003
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanismsEmyr Lloyd-Evans, Dori Pelled, Christian Riebeling, et al.Kidney International|August 26, 2004
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry diseaseMarkus Ries, Karen E Bove Bettis, Peter Choyke, et al.Journal of Clinical Pharmacology|August 19, 2007
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries, Joe T Clarke, Catharina Whybra, et al.Journal of Lipid Research|July 13, 2011
Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry miceBrandon Durant, Sabrina Forni, Lawrence Sweetman, et al.Movement Disorders Clinical Practice|March 7, 2019
Dystonia in RNA Polymerase III-Related LeukodystrophyGhalia Al Yazidi, Luan T Tran, Kether Guerrero, et al.Annals of Neurology|November 19, 2020
Silent New Brain MRI Lesions in Children with MOG-Antibody Associated DiseaseGiulia Fadda, Brenda Banwell, Patrick Waters, et al.Annals of Neurology|April 5, 2012
Implication of perturbed axoglial apparatus in early pediatric multiple sclerosisAjit Singh Dhaunchak, Christopher Becker, Howard Schulman, et al.Pageof 41