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The Journal of Pathology|October 6, 2017
Reduced cerebral vascularization in experimental neuronopathic Gaucher diseaseNicholas Jc Smith, Maria Fuller, Jennifer T Saville, et al.
Molecular Genetics and Metabolism|September 21, 2007
Secondary sphingolipid accumulation in a macrophage model of Gaucher diseaseLeanne K Hein, Peter J Meikle, John J Hopwood, et al.
Molecular Genetics and Metabolism|August 21, 2023
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening resultsJennifer T Saville, Zackary M Herbst, Michael H Gelb, et al.
Human Gene Therapy|December 19, 2020
Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of DiseaseJennifer T Saville, Ainslie L K Derrick-Roberts, Chantelle McIntyre, et al.
Analytica Chimica Acta|January 16, 2017
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophyJennifer T Saville, Nicholas J C Smith, Janice M Fletcher, et al.
International Journal of Neonatal Screening|October 30, 2020
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-IZackary M Herbst, Leslie Urdaneta, Terri Klein, et al.
Molecular Genetics and Metabolism Reports|December 18, 2020
Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophyMaria Fuller, Rebecca Perry, Madiha Saiedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Is it Fabry disease?Raphael Schiffmann, Maria Fuller, Lorne A Clarke, et al.
Plos One|September 16, 2016
Stearoyl-CoA Desaturase 1 Is a Key Determinant of Membrane Lipid Composition in 3T3-L1 AdipocytesSergio Rodriguez-Cuenca, Lauren Whyte, Rachel Hagen, et al.
Molecular Genetics and Metabolism|October 11, 2023
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycansZackary M Herbst, Xinying Hong, Martin Sadilek, et al.
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