Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome by Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood

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A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening by Seok-Ho Yu, Laura Pollard, Tim Wood, Heather Flanagan-Steet, Richard Steet

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Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III by Xinying Hong, Laura Pollard, Miao He, Michael H. Gelb, Timothy C. Wood

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Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome by Daniel C. Julien, Kara Woolgar, Laura Pollard, Holly Miller, Ankit Desai, Kristin Lindstrom, Priya S. Kishnani

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O01: Outcomes of newborn screening for mucopolysaccharidosis type I: Boston Children’s Hospital single center experience* by Aishwarya Siddharth, Christina Grassie, Emma Michl, Roy Peake, Olaf Bodamer, Richard Steet, Marzia Pasquali, Laura Pollard

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P001: Single center experience with the Massachusetts State Newborn Screening Pilot Program for mucopolysaccharidosis type I, Pompe disease and X-linked adrenoleukodystrophy by Christina Grassie, Aishwarya Siddharth, Emma Michl, Stephanie Sacharow, Amy Kritzer, Olaf Bodamer, Roy Peake, Patricia Hall, Dietrich Matern, Suzette Huguenin, Marzia Pasquali, Laura Pollard

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Base editing corrects the common Salla disease SLC17A5 c.115C>T variant by Jerry F. Harb, Chloe L. Christensen, Shih-Hsin Kan, Allisandra K. Rha, Perla Andrade-Heckman, Laura Pollard, Richard Steet, Jeffrey Y. Huang, Raymond Y. Wang

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Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)... by Young Bae Sohn, Raymond Wang, Jane Ashworth, Pierre Broqua, Mireille Tallandier, Jean-Louis Abitbol, Erin Jozwiak, Laura Pollard, Timothy C. Wood, Tariq Aslam, Paul R. Harmatz

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RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A by Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie

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O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I by Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder

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