Search Results - Laura Pollard

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  1. 1

    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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  2. 2

    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

    Published in Molecular Genetics and Metabolism Reports (2023-06-01)
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  3. 3

    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

    Published in Genetics in Medicine Open (2023-01-01)
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  4. 4

    Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease by Marya S. Sabir, Mahin S. Hossain, Laura Pollard, Marjan Huizing, William A. Gahl, Frances M. Platt, May Christine V. Malicdan

    Published in Biochemistry and Biophysics Reports (2025-06-01)
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  5. 5

    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

    Published in Genetics in Medicine Open (2023-01-01)
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  6. 6

    Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan

    Published in JIMD Reports (2025-07-01)
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  7. 7

    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

    Published in Molecular Therapy: Nucleic Acids (2023-12-01)
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  8. 8

    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

    Published in Molecular Genetics and Metabolism Reports (2024-03-01)
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  9. 9

    Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) by Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan

    Published in Stem Cell Research (2024-12-01)
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  10. 10

    Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism by Marya S. Sabir, Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard, Richard Steet, William A. Gahl, Marjan Huizing, Carlos A. Tristan, Frances M. Platt, May Christine V. Malicdan

    Published in Scientific Reports (2025-08-01)
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  11. 11

    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

    Published in Genetics in Medicine Open (2024-01-01)
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  12. 12

    P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes by Sean Daugherty, Takashi Hamazaki, Madhuri Hegde, Roberto Giugliani, Tippi MacKenzie, Lisa Dilworth, Mark Kiel, Omid Japalaghi, Billie Lianoglou, J. Lawrence Merritt, Tatiele Nalin, Vikram Pansare, Laura Pollard, Heather Richbourg, Teresa Sparks, Nicole Miller, Vanessa Rangel Miller

    Published in Genetics in Medicine Open (2025-01-01)
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