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

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Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells حسب Jarrod W. Barnes, Megan Aarnio-Peterson, Joy Norris, Mark Haskins, Heather Flanagan-Steet, Richard Steet

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The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases حسب Brianna M. Naumchik, Ashish Gupta, Heather Flanagan-Steet, Richard A. Steet, Sara S. Cathey, Paul J. Orchard, Troy C. Lund

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Functional assessment of IDUA variants of uncertain significance identified by newborn screening حسب Seok-Ho Yu, Francyne Kubaski, Gavin Arno, Whitney Phinney, Tim C. Wood, Heather Flanagan-Steet, Laura M. Pollard, Richard Steet

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Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders حسب Jen-Jie Lee, Tong Wang, Kali Wiggins, Po Nien Lu, Christina Underwood, Katarzyna Ochenkowska, Eric Samarut, Laura M. Pollard, Heather Flanagan-Steet, Richard Steet

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PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation حسب Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger

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