Hasil Pencarian - Matthew Schultz

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  1. 1
    P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory

    P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory oleh Rachel Wurth, Coleman Turgeon, Zinandré Stander, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

    Diterbitkan 2023-01-01
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  2. 2
    367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory

    367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory oleh Rachel Wurth, Coleman Turgeon, ZinandréStander, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

    Diterbitkan 2023-04-01
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  3. 3
    P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation

    P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation oleh Zinandre Stander, William Laxen, Perry Loken, Amy White, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

    Diterbitkan 2024-01-01
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  4. 4
    O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics

    O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics oleh Rachel Wurth, Coleman Turgeon, Zinandre Stander, Dietrich Matern, Amy White, Dimitar Gavrilov, Patricia Hall, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

    Diterbitkan 2024-01-01
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  5. 5
    P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care

    P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care oleh Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli

    Diterbitkan 2023-01-01
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  6. 6
    P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy*

    P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy* oleh Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz

    Diterbitkan 2024-01-01
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  7. 7
    O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients*

    O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients* oleh Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Silvia Tortorelli

    Diterbitkan 2023-01-01
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  8. 8
    P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*

    P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia* oleh Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee

    Diterbitkan 2024-01-01
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  9. 9
    Scalable detection of technically challenging variants through modified next‐generation sequencing

    Scalable detection of technically challenging variants through modified next‐generation sequencing oleh Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Hannah Hatchell, Britt Johnson, Ben Kallman, Kate Karfilis, Curtis Kautzer, Michael Kennemer, Lloyd Kirk, Daniel Kvitek, Jessica Lettes, Fenner Macrae, Fernando Mendez, Joshua Paul, Maurizio Pellegrino, Ronny Preciado, Jan Risinger, Matthew Schultz, Lindsay Spurka, Sajani Swamy, Rebecca Truty, Nathan Usem, Andrea Velenich, Swaroop Aradhya

    Diterbitkan 2022-12-01
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