Search Results - Silvia Tortorelli
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1
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California by Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino
Published 2020Call Number: Loading…Connect to this object online.
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2
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 2020Call Number: Loading…Connect to this object online.
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3
Newborn Screening for X-Linked Adrenoleukodystrophy by Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel, Gerald V. Raymond
Published 2016Call Number: Loading…Connect to this object online.
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4
Acquired erythropoietic uroporphyria associated with clonal cytopenia of undetermined significance by Leah A. Swanson, MD, Freyr Johannsson, PhD, Silvia Tortorelli, MD, PhD, Cecilia Arana Yi, MD, MSHS, Surbhi Shah, MBBS, MD
Published 2023Call Number: Loading…Connect to this object online.
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5
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 2020Call Number: Loading…Connect to this object online.
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6
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 2020Call Number: Loading…Connect to this object online.
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