检索结果 - Matthew Schultz

P776: Classification of c.293-7C>G in the CYP21A2 gene: Contributor to congenital adrenal hyperplasia or simply a passenger variant? 由 Rosalie Sterner, Michelle Kluge, Heather Glessner, Katrina Kotzer, Emily Thoreson, Elyse Love, Matthew Schultz, Ann Moyer

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

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

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

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P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease* 由 Dietrich Matern, Gisele Pino, April Studinski, Dawn Peck, Amy White, Dimitar Gavrilov, Patricia Hall, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli

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

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

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P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns 由 Ibrahim Khoja, Gisele Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Devin Oglesbee, Dietrich Matern, Matthew Schultz, Patricia Hall, Silvia Tortorelli, Amy White

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Radiographic Predictors of Surgical Management of Symptomatic Calcaneal Spurs: A Retrospective Cohort Study 由 Joseph A.S McCahon DO, Adam Kohring DO, Matthew Schultz DO, Joseph Massaglia DO, Selene G. Parekh MD, MBA, David I. Pedowitz DO, Joseph N. Daniel DO

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P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy* 由 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

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O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients* 由 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

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P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia* 由 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

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Scalable detection of technically challenging variants through modified next‐generation sequencing 由 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

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