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Molecular Genetics and Metabolism|December 29, 2007
Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher diseaseMaria Fuller, Tina Rozaklis, Melanie Lovejoy, et al.
Molecular Genetics and Metabolism|May 21, 2019
Evaluation of biomarkers for Sanfilippo syndromeJennifer T Saville, Kevin M Flanigan, Kristen V Truxal, et al.
Clinical Chemistry|July 15, 2006
Immunochemistry of lysosomal storage disordersEmma Parkinson-Lawrence, Maria Fuller, John J Hopwood, et al.
Molecular Genetics and Metabolism|January 11, 2005
Prediction of neuropathology in mucopolysaccharidosis I patientsMaria Fuller, Doug A Brooks, Marco Evangelista, et al.
Journal of Neurochemistry|February 8, 2017
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of dietJennifer T Saville, Hong Ngoc Thai, Rebecca J Lehmann, et al.
JIMD Reports|September 9, 2020
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVASharon J Chin, Jennifer T Saville, Belinda K McDermott, et al.
Clinical Chemistry|September 15, 2004
Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry diseaseMaria Fuller, Melanie Lovejoy, Doug A Brooks, et al.
Analytical Biochemistry|January 14, 2012
Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouseMaria Fuller, Stephen Duplock, Christopher Turner, et al.
The Biochemical Journal|December 7, 2007
Effect of lysosomal storage on bis(monoacylglycero)phosphatePeter J Meikle, Stephen Duplock, David Blacklock, et al.
Clinical Chemistry|February 8, 2005
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotesMaria Fuller, Peter C Sharp, Tina Rozaklis, et al.
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