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Orphanet Journal of Rare Diseases|February 24, 2018
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher diseaseAri Zimran, Michael Wajnrajch, Betina Hernandez, et al.Current Medical Research and Opinion|February 13, 2009
Goal-oriented therapy with miglustat in Gaucher diseaseGregory M Pastores, Pilar Giraldo, Patrick Chérin, et al.Journal of Inherited Metabolic Disease|February 4, 2011
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activityPhilip Stein, Ruhua Yang, Jun Liu, et al.Journal of Inherited Metabolic Disease|August 5, 2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapyPhilip Stein, Advitya Malhotra, Andrew Haims, et al.Muscle & Nerve|July 22, 2008
Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patientsBarbara E Shapiro, Eric L Logigian, Edwin H Kolodny, et al.Irish Journal of Medical Science|March 11, 2018
The benefits of a Neurogenetics clinic in an adult Academic Teaching HospitalDiana A Olszewska, Terri McVeigh, Emer M Fallon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2009
Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatmentBarbara E Shapiro, Gregory M Pastores, John Gianutsos, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 31, 2007
Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal diseaseGregory M Pastores, Ellen Boyd, Kerry Crandall, et al.Molecular Genetics and Metabolism Reports|October 2, 2018
Metallosis mimicking a metabolic disorder: a case reportKarolina M Stepien, Zaza Abidin, Graham Lee, et al.Molecular Genetics and Metabolism Reports|July 18, 2018
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencyKarolina M Stepien, Philomena McCarthy, Eileen P Treacy, et al.Pageof 10