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Blood Cells, Molecules & Diseases|December 7, 2007
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic interventionPeter J Meikle, Philip D Whitfield, Tina Rozaklis, et al.
Experimental Neurology|May 18, 2011
Treatment of canine fucosidosis by intracisternal enzyme infusionGauthami S Kondagari, Barbara M King, Peter C Thomson, et al.
EMBO Molecular Medicine|March 17, 2022
Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disordersMurtaza S Nagree, Tania C Felizardo, Mary L Faber, et al.
Brain Communications|February 16, 2022
The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical casesGabrielle R Phillips, Jennifer T Saville, Sarah E Hancock, et al.
Plos One|May 30, 2008
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB miceJérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, et al.
International Journal of Neonatal Screening|June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family PlanningMona Sajeev, Sharon Chin, Gladys Ho, et al.
Neurobiology of Disease|May 10, 2011
Enzyme replacement reduces neuropathology in MPS IIIA dogsAllison C Crawley, Neil Marshall, Helen Beard, et al.
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.
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