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Plos One|March 9, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patientsBrandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, et al.
British Journal of Haematology|August 30, 2002
Effect of anti-CD20 (rituximab) on resistant thrombocytopenia in autoimmune lymphoproliferative syndromeBridget T Heelan, Vincent Tormey, Peter Amlot, et al.
Journal of Inherited Metabolic Disease|October 18, 2017
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort studyMaarten Arends, Simon Körver, Derralynn A Hughes, et al.
JAMA Neurology|December 16, 2014
Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohortMichelle Beavan, Alisdair McNeill, Christos Proukakis, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 2, 2015
Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring toolMaria Fuller, Jeff Szer, Samantha Stark, et al.
Molecular Genetics and Metabolism|August 30, 2017
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry diseaseAndrew Talbot, Kathy Nicholls, Janice M Fletcher, et al.
Neurology|March 13, 2015
Clinical prodromes of neurodegeneration in Anderson-Fabry diseaseMatthias Löhle, Derralynn Hughes, Alan Milligan, et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation|October 11, 2003
Primary adenocarcinoma in a donor lung: evaluation and surgical managementErik A K Beyer, Malcolm M DeCamp, Nicholas G Smedira, et al.
Blood Cells, Molecules & Diseases|November 20, 2016
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutationsDavid Arkadir, Tama Dinur, Stephen Mullin, et al.
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