Search Results - Amy White
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P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation by Zinandre Stander, William Laxen, Perry Loken, Amy White, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Silvia Tortorelli
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease* by Dietrich Matern, Gisele Pino, April Studinski, Dawn Peck, Amy White, Dimitar Gavrilov, Patricia Hall, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli
Published in Genetics in Medicine Open (2025-01-01)Get full text
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O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics by Rachel Wurth, Coleman Turgeon, Zinandre Stander, Dietrich Matern, Amy White, Dimitar Gavrilov, Patricia Hall, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P018: Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care by Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns by Ibrahim Khoja, Gisele Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Devin Oglesbee, Dietrich Matern, Matthew Schultz, Patricia Hall, Silvia Tortorelli, Amy White
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase by Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall
Published in Molecular Genetics and Metabolism Reports (2024-09-01)Get full text
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P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy* by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients* by 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
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia* by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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