Hasil Pencarian - Piero Rinaldo

  • Menampilkan 1 - 16 hasil dari 16
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  1. 1
    The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California

    The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California oleh Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino

    Diterbitkan 2020-08-01
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  2. 2
    Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots.

    Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots. oleh Coleman T Turgeon, Karen A Sanders, Piero Rinaldo, Dane Granger, Heather Hilgart, Dietrich Matern, Elitza S Theel

    Diterbitkan 2021-01-01
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  3. 3
    A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

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

    Diterbitkan 2017-12-01
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  4. 4
    Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

    Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency oleh Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson

    Diterbitkan 2020-05-01
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  5. 5
    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

    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 oleh Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo

    Diterbitkan 2020-04-01
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  6. 6
    Cold Storage of Rat Hepatocyte Spheroids

    Cold Storage of Rat Hepatocyte Spheroids oleh Hongling Liu, Yue Yu, Jaime Glorioso, Shennen Mao, Brian Rodysil, Bruce P. Amiot, Piero Rinaldo, Scott L. Nyberg M.D., Ph.D.

    Diterbitkan 2014-07-01
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  7. 7
    Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.

    Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. oleh Ravi J Tolwani, Doug A Hamm, Liqun Tian, J Daniel Sharer, Jerry Vockley, Piero Rinaldo, Dietrich Matern, Trenton R Schoeb, Philip A Wood

    Diterbitkan 2005-08-01
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  8. 8
    Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria

    Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria oleh Ester Perales‐Clemente, Angela L. Hewitt, April L. Studinski, Jan‐Mendelt Tillema, William J. Laxen, Devin Oglesbee, Arne H. Graff, Piero Rinaldo, Brendan C. Lanpher

    Diterbitkan 2021-03-01
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  9. 9
    Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

    Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency oleh Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet, K. Michael Gibson

    Diterbitkan 2020-09-01
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  10. 10
    Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease

    Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease oleh Raymond D. Hickey, Shennen A. Mao, Jaime Glorioso, Joseph B. Lillegard, James E. Fisher, Bruce Amiot, Piero Rinaldo, Cary O. Harding, Ronald Marler, Milton J. Finegold, Markus Grompe, Scott L. Nyberg

    Diterbitkan 2014-07-01
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  11. 11
    The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

    The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses oleh Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli

    Diterbitkan 2021-07-01
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  12. 12
    A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

    A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders oleh 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

    Diterbitkan 2020-05-01
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  13. 13
    Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

    Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I oleh 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

    Diterbitkan 2020-02-01
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  14. 14
    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) oleh Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson

    Diterbitkan 2022-07-01
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  15. 15
    A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

    A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools oleh Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo

    Diterbitkan 2021-04-01
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  16. 16
    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses oleh Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen

    Diterbitkan 2020-06-01
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