Výsledky vyhledávání - Coleman Turgeon

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  1. 1
    Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

    Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots Autor Coleman Turgeon, Mark J Magera, Pierre Allard, Silvia Tortorelli, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Dietrich Matern

    Vydáno 2008
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  2. 2
    Precision newborn screening for lysosomal disorders

    Precision newborn screening for lysosomal disorders Autor Melissa M. Minter Baerg, Stephanie D. Stoway, Jeremy Hart, Lea Mott, Dawn Peck, Stephanie L. Nett, Jason S. Eckerman, Jean M. Lacey, Coleman Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo

    Vydáno 2017
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  3. 3
    Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation

    Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation Autor Omar Y. Mousa, Brian D. Juran, Bryan M. McCauley, Mette Vesterhus, Trine Folseraas, Coleman Turgeon, Ahmad H. Ali, Erik M. Schlicht, Elizabeth J. Atkinson, Chang Hu, Denise M. Harnois, Elizabeth J. Carey, Andrea A. Gossard, Devin Oglesbee, John E. Eaton, Nicholas F. LaRusso, Gregory J. Gores, Tom H. Karlsen, Konstantinos N. Lazaridis

    Vydáno 2020
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  4. 4
    The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

    The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease Autor Adam J. Guenzel, Coleman Turgeon, Kim K. Nickander, Amy White, Dawn Peck, Gisele Pino, April Studinski, Vinod K. Prasad, Joanne Kurtzberg, Maria L. Escolar, Maria Laura Duque Lasio, Joan E. Pellegrino, Ai Sakonju, Rachel Hickey, Natalie Shallow, Margie Ream, Joseph J. Orsini, Michael H. Gelb, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern

    Vydáno 2020
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  5. 5
    Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

    Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories Autor Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin‐Hsiu Chien, George J. Dizikes, M. 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 J. Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo‐Fresnais, Coleman Turgeon, Frédéric M. Vaz, Liyun Wang, Dietrich Matern

    Vydáno 2022
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  6. 6
    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Autor Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément, David Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman Turgeon, Bernardo Blanco‐Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte G. Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Hove, Jakob Ek, David R. Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen F. Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo Raymond, John A. Phillips, George E. Tiller, William G. Wilson, Rizwan Hamid, May Christine V. Malicdan, Gen Nishimura, Giedre Grigelioniené, Andrew P. Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze

    Vydáno 2018
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  7. 7
    Enhanced interpretation of newborn screening results without analyte cutoff values

    Enhanced interpretation of newborn screening results without analyte cutoff values Autor Gregg Marquardt, Robert J. Currier, David McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie‐Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al‐Thihli, Graham Sinclair, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R. Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Horník, Iman Mandour, Sahar Sharaf, Olaf A. Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey‐Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis L. Loukas, Vagelis Papakonstantinou, Georgios S.A. Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jón J. Jónsson, Nancy N. Breen, Barbara G. Lesko, Stanton L. Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, I. Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn Manos, Colleen K. Peterson, Stephanie K. Mayfield Gibson, Darrin W. Sevier, Soo‐Youn Lee, Hyung‐Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S. Watson, Roger B. Eaton, Inderneel Sahai, Consuelo Ruiz, Rosário Torres, Mary Seeterlin, Eleanor Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V. Hopkins, Monique G. de Sain-van der Velden, Bert Elvers, Mark A. Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M. Frazier, Julie McClure, David E. Sesser

    Vydáno 2012
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