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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.
Journal of Bronchology & Interventional Pulmonology|March 18, 2026
Endobronchial Ultrasound-guided Transbronchial Needle Aspiration Detection of PET-CT Negative Contralateral Hilar Lymph Node Metastasis in the Staging of Non-small cell Lung CancerArsal Tharwani, Brian Shaller, Carlos Aravena, 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.
JACC. Cardiovascular Imaging|May 21, 2018
Proposed Stages of Myocardial Phenotype Development in Fabry DiseaseSabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, et al.
British Journal of Cancer|May 22, 2020
Fatigue, quality of life and physical fitness following an exercise intervention in multiple myeloma survivors (MASCOT): an exploratory randomised Phase 2 trial utilising a modified Zelen designDimitrios A Koutoukidis, Joanne Land, Allan Hackshaw, et al.
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