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Publications by Jonathan H. LeBowitz
Assessment of Predicted Enzymatic Activity of Alpha‐N‐acetylglucosaminidase (NAGLU) Variants of Unknown Significance for CAGI 2016
Human Mutation
Genetics
Glycosylation-Independent Lysosomal Targeting of Acid Α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
BMN 250, a Fusion of Lysosomal Alpha-N-Acetylglucosaminidase With IGF2, Exhibits Different Patterns of Cellular Uptake Into Critical Cell Types of Sanfilippo Syndrome B Disease Pathogenesis
PLoS ONE
Multidisciplinary
Utilizing ExAC to Assess the Hidden Contribution of Variants of Unknown Significance to Sanfilippo Type B Incidence
PLoS ONE
Multidisciplinary
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