Hasil Pencarian - Laura Pollard

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  1. 1
    Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

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

    Diterbitkan 2022-12-01
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  2. 2
    A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening

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

    Diterbitkan 2020-11-01
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  3. 3
    Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

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

    Diterbitkan 2023-06-01
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  4. 4
    Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

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

    Diterbitkan 2020-05-01
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  5. 5
    O01: Outcomes of newborn screening for mucopolysaccharidosis type I: Boston Children’s Hospital single center experience*

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

    Diterbitkan 2023-01-01
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  6. 6
    P001: Single center experience with the Massachusetts State Newborn Screening Pilot Program for mucopolysaccharidosis type I, Pompe disease and X-linked adrenoleukodystrophy

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

    Diterbitkan 2023-01-01
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  7. 7
    Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

    Base editing corrects the common Salla disease SLC17A5 c.115C>T variant oleh 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

    Diterbitkan 2023-12-01
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  8. 8
    Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

    Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis oleh Troy C. Lund, Weston P. Miller, Julie B. Eisengart, Katrina Simmons, Laura Pollard, Deborah L. Renaud, David A. Wenger, Marc C. Patterson, Paul J Orchard

    Diterbitkan 2019-07-01
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  9. 9
    Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)

    Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)... oleh 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

    Diterbitkan 2024-03-01
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  10. 10
    RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

    RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A oleh 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

    Diterbitkan 2022-06-01
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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

    O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I oleh 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

    Diterbitkan 2024-01-01
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