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1دورية أكاديمية
المؤلفون: Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton
المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101084- (2024)
مصطلحات موضوعية: Pegvaliase, PEGylated phenylalanine ammonia lyase, Phenylalanine, Phenylketonuria, PRISM, Recombinant Anabaena variabilis, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Amy Yang, Mariya Moosajee, Chiara La Morgia, Valerio Carelli, Flavia Palombo, Matthew A. Lines, A. Micheil Innes, Rebecca J. Levy, Derek Neilson, Nicola Longo, Taosheng Huang
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100841- (2024)
مصطلحات موضوعية: FDXR, Ferredoxin reductase, Carrier screening, Mexican-Americans, Mitochondrial disease, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Krista Viau, Leslie Martell, Ann Wessel, Fran Rohr, Suzanne Hollander, Melissa S. Putman, Stephanie Sacharow
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101015- (2023)
مصطلحات موضوعية: Phenylketonuria, Pegvaliase, Nutritional status, Protein intake, Body composition, Eating behaviors, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Christina Grassie, Aishwarya Siddharth, Emma Michl, Stephanie Sacharow, Amy Kritzer, Olaf Bodamer, Roy Peake, Patricia Hall, Dietrich Matern, Suzette Huguenin, Marzia Pasquali, Laura Pollard
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100011- (2023)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey McNutt, Joseph W. Ray, Heather Saavedra, Stephanie Sacharow, Danielle Starin, Jennifer Tiffany-Amaro, Janet Thomas, Erika Vucko, Leah B. Wessenberg, Kaleigh Whitehall
المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100790- (2021)
مصطلحات موضوعية: Phenylketonuria, Case series, Pegvaliase, PEGylated phenylalanine ammonia lyase, PKU diet, Adverse events, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100703- (2021)
مصطلحات موضوعية: Orotic aciduria, Uridine-5-monophosphate synthase, Immunodeficiency, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin Goodlett, Amy Kritzer, Harvey Levy, Leslie Martell, Ann Wessel, Krista Viau
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100603- (2020)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Daria Salyakina, Holly N Cukier, Joycelyn M Lee, Stephanie Sacharow, Laura D Nations, Deqiong Ma, James M Jaworski, Ioanna Konidari, Patrice L Whitehead, Harry H Wright, Ruth K Abramson, Scott M Williams, Ramkumar Menon, Jonathan L Haines, John R Gilbert, Michael L Cuccaro, Margaret A Pericak-Vance
المصدر: PLoS ONE, Vol 6, Iss 10, p e26049 (2011)
وصف الملف: electronic resource
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9
المؤلفون: Suzanne, Hollander, Krista, Viau, Stephanie, Sacharow
المصدر: Molecular Genetics and Metabolism. 137:104-106
مصطلحات موضوعية: Adult, Clinical Trials as Topic, Endocrinology, Phenylketonurias, Endocrinology, Diabetes and Metabolism, Genetics, Humans, Molecular Biology, Biochemistry, Phenylalanine Ammonia-Lyase, Retrospective Studies
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10
المؤلفون: Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz‐Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne‐Marie Guerrot, Lance Rodan, Bert B. A. de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, Maria Palomares‐Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic‐Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller‐Ramey, Teresa Santiago‐Sim, Rhonda E. Schnur, David A. Sweetser, Nina B. Gold
المصدر: American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)
وصف الملف: application/pdf