Search Results - Dietrich Matern

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  1. 1
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    A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry by Rose Maase, Victor Skrinska, Noura Younes, Lubna Hassan, Rola Mitri, Dietrich Matern, Piero Rinaldo, Coleman Turgeon

    Published 2017
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  2. 2
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    Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report by Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone

    Published 2021
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  3. 3
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    The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism by Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo

    Published 2020
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  4. 4
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    Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements by Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg, Joseph J. Orsini

    Published 2024
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  5. 5
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    Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease by Zackary Herbst, Coleman T. Turgeon, Chad Biski, Hamid Khaledi, Nancy B. Shoemaker, Patrick D. DeArmond, Sara Smith, Joseph Orsini, Dietrich Matern, Michael H. Gelb

    Published 2020
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  6. 6
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    A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders by Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern

    Published 2020
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  7. 7
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    Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I by Dawn S. Peck, Jean M. Lacey, Amy L. White, Gisele Pino, April L. Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli

    Published 2020
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  8. 8
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    Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern

    Published 2022
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