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Human Mutation|March 19, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer, Karin Baron, Urs Widmer, et al.American Journal of Hematology|March 6, 2012
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variationClarence K Zhang, Philip B Stein, Jun Liu, et al.Skeletal Radiology|May 13, 2014
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustatRavi S Kamath, Elena Lukina, Nora Watman, et al.Blood|August 18, 2010
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 studyElena Lukina, Nora Watman, Elsa Avila Arreguin, et al.Molecular Genetics and Metabolism|October 7, 2014
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trialChristian J Hendriksz, Roberto Giugliani, Paul Harmatz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng, Dominique P Germain, Maryam Banikazemi, et al.JIMD Reports|November 22, 2017
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase AlfaKenneth I Berger, Barbara K Burton, Gregory D Lewis, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|February 10, 2016
Glucocerebrosidase enzyme activity in GBA mutation Parkinson's diseaseRoberto A Ortega, Paola A Torres, Matthew Swan, et al.European Journal of Human Genetics : EJHG|February 28, 2008
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?Marian A Kroos, Reinier A Mullaart, Laura Van Vliet, et al.Blood|May 5, 2010
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1Elena Lukina, Nora Watman, Elsa Avila Arreguin, et al.Pageof 10