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Plos One|December 1, 2020
Natural history study of glycan accumulation in large animal models of GM2 gangliosidosesCatlyn Cavender, Linley Mangini, Jeremy L Van Vleet, et al.
Glycobiology|January 4, 2020
Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVARoger Lawrence, Heather Prill, Preejith P Vachali, et al.
Molecular Genetics and Metabolism|March 10, 2012
Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis IPatricia I Dickson, N Matthew Ellinwood, Jillian R Brown, et al.
JIMD Reports|July 8, 2024
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemiaLinley Mangini, Roger Lawrence, Manuel E Lopez, et al.
Journal of Biochemistry|October 26, 2021
GlcNAc-Asn is a biomarker for NGLY1 deficiencyWilliam F Mueller, Lei Zhu, Brandon Tan, et al.
Molecular Genetics and Metabolism|October 22, 2019
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis IMoin U Vera, Steven Q Le, Alla Victoroff, et al.
Molecular Genetics and Metabolism|April 11, 2021
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndromeShih-Hsin Kan, Ibrahim Elsharkawi, Steven Q Le, et al.
Molecular Genetics and Metabolism|October 9, 2013
Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II miceKazumasa Akiyama, Yohta Shimada, Takashi Higuchi, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 30, 2008
Surfen, a small molecule antagonist of heparan sulfateManuela Schuksz, Mark M Fuster, Jillian R Brown, et al.
Molecular Therapy. Methods & Clinical Development|July 17, 2019
Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type BHeather Prill, Amanda Luu, Bryan Yip, et al.
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