Search Results - Amy White
- Showing 1 - 6 results of 6
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Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians by Karl E. Anderson, Raynah Lobo, Denise Salazar, Mary Schloetter, Gary Spitzer, Amy White, Randolph M. Young, Herbert L. Bonkovsky, Elizabeth L. Frank, Jordanna Mora, Silvia Tortorelli
Published 2021Revisão -
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βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy by Chih-Chuan Wang, Xilma R. Ortiz‐González, Sabrina W. Yum, Sara M. Gill, Amy White, Erin Kelter, Laurie H. Seaver, Sansan Lee, Graham B. Wiley, Patrick M. Gaffney, Klaas J. Wierenga, Matthew N. Rasband
Published 2018Artigo -
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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease by Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon Jones, Rebecca Olson, Amy White, Cara Wells, Deeksha Bali, Laura E. Case, Sarah P. Young, Amy S. Rosenberg, Priya S. Kishnani
Published 2012Artigo -
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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I by Dawn Peck, Jean M. Lacey, Amy White, Gisele Pino, April 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 2020Artigo -
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease by 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
Published 2020Artigo
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