檢索結果 - April Studinski

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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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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Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase 由 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

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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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