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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.The Annals of Thoracic Surgery|November 5, 2018
Patterns of Recurrence and Overall Survival in Incidental Lung Cancer in Explanted LungsUsman Ahmad, Ali H Hakim, Andrew Tang, et al.Plos One|August 2, 2017
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factorsMaarten Arends, Marieke Biegstraaten, Derralynn A Hughes, et al.Kidney International|April 21, 2005
Anemia is a new complication in Fabry disease: data from the Fabry Outcome SurveyJulia Kleinert, François Dehout, Andreas Schwarting, et al.American Journal of Hypertension|August 1, 2006
Prevalence of uncontrolled hypertension in patients with Fabry diseaseJulia Kleinert, François Dehout, Andreas Schwarting, et al.BMC Nephrology|February 24, 2020
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, AustraliaAndrew Mallett, Phoebe Kearey, Anne Cameron, et al.JIMD Reports|November 7, 2013
Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured CellsMakoto Kamei, Karissa Kasperski, Maria Fuller, et al.Neuromuscular Disorders : NMD|May 19, 2020
Is it Pompe Disease? Australian diagnostic considerationsMichel Tchan, Robert Henderson, Andrew Kornberg, et al.Clinical Chemistry and Laboratory Medicine|August 6, 2021
The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trialCorey Markus, Suzette Coat, Hanns-Ulrich Marschall, et al.Journal of Inherited Metabolic Disease|February 22, 2012
The cognitive profile of type 1 Gaucher disease patientsMarieke Biegstraaten, Keith A Wesnes, Cécile Luzy, et al.Pageof 24