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BMC Nephrology|May 3, 2022
The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) studyAndrew Mallett, Phoebe Jane Kearey, Anne Cameron, et al.
Molecular Genetics and Metabolism|August 25, 2009
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle studyKim M Hemsley, Elizabeth J Norman, Allison C Crawley, et al.
European Journal of Medical Genetics|June 14, 2021
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorderGuy Helman, Lauren E Taylor, Marzena Walkiewicz, et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation|May 17, 2021
Pleural space management after lung transplant: Early and late outcomes of pleural decorticationJesse M Rappaport, Hafiz U Siddiqui, Andrew Tang, et al.
Nature Chemical Biology|November 6, 2007
Catalytic generation of N2O3 by the concerted nitrite reductase and anhydrase activity of hemoglobinSwati Basu, Rozalina Grubina, Jinming Huang, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cellsRebecca J Lehmann, Lachlan A Jolly, Brett V Johnson, et al.
Orphanet Journal of Rare Diseases|October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher diseaseSimona D'Amore, Kathleen Page, Aimée Donald, et al.
American Journal of Hematology|August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
American Journal of Hematology|February 13, 2013
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher diseaseHadhami Ben Turkia, Derlis E Gonzalez, Norman W Barton, et al.
Molecular Genetics and Metabolism|April 8, 2006
Newborn screening for lysosomal storage disordersPeter J Meikle, Dallas J Grasby, Caroline J Dean, et al.
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