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1دورية أكاديمية
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2دورية أكاديمية
المؤلفون: Vera, Moin U, Le, Steven Q, Victoroff, Alla, Passage, Merry B, Brown, Jillian R, Crawford, Brett E, Polgreen, Lynda E, Chen, Agnes H, Dickson, Patricia I
المصدر: Molecular Genetics and Metabolism. 129(2)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Clinical Research, Rare Diseases, Mucopolysaccharidoses (MPS), Biomarkers, Clinical Laboratory Techniques, Drug Monitoring, Enzyme Replacement Therapy, Glycosaminoglycans, Humans, Iduronidase, Mucopolysaccharidosis I, Mucopolysaccharidosis, Lysosomal storage disorder, Enzyme replacement therapy, Hurler, Glycosaminoglycan, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/24m0w8jm
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3دورية أكاديمية
المؤلفون: Chen, Agnes H, Harmatz, Paul, Nestrasil, Igor, Eisengart, Julie B, King, Kelly E, Rudser, Kyle, Kaizer, Alexander M, Svatkova, Alena, Wakumoto, Amy, Le, Steven Q, Madden, Jacqueline, Young, Sarah, Zhang, Haoyue, Polgreen, Lynda E, Dickson, Patricia I
المصدر: Molecular Genetics and Metabolism. 129(2)
مصطلحات موضوعية: Clinical Trials and Supportive Activities, Regenerative Medicine, Mucopolysaccharidoses (MPS), Neurosciences, Stem Cell Research, Rare Diseases, Brain Disorders, Pain Research, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Neurological, Adolescent, Adult, Child, Cognitive Dysfunction, Enzyme Replacement Therapy, Female, Humans, Iduronidase, Injections, Spinal, Male, Middle Aged, Mucopolysaccharidosis I, Pilot Projects, Prospective Studies, Recombinant Proteins, Research Design, Young Adult, Mucopolysaccharidosis, Lysosomal disease, Intrathecal enzyme replacement therapy, Hurler, Glycosaminoglycan, Cognitive decline, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2rm1c45c
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4دورية أكاديمية
المؤلفون: Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Diseases, Program for Undiagnosed, Callens, Steven, Coucke, Paul, Hemelsoet, Dimitri, Terryn, Wim, Van Coster, Rudy, Network, Undiagnosed Diseases, Adams, David R, Alejandro, Mercedes E, Allard, Patrick, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dillon, Ani, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A
المصدر: American Journal of Human Genetics. 103(2)
مصطلحات موضوعية: Neurodegenerative, Brain Disorders, Neurosciences, Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Neurological, Program for Undiagnosed Diseases, Undiagnosed Diseases Network, C3HC4 RING finger, CG11138, Drosophila, EAP1, ataxia, developmental regression, hypotonia, neurodegeneration, pits, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2sb1c8bg
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5دورية أكاديمية
المؤلفون: Zhang, Haoyue, Dickson, Patricia I., Stiles, Ashlee R., Chen, Agnes H., Le, Steven Q., McCaw, Patricia, Beasley, James, Millington, David S., Young, Sarah P.
المصدر: In Clinica Chimica Acta September 2020 508:179-184
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6دورية أكاديمية
المؤلفون: Dickson, Patricia I, Kaitila, Ilkka, Harmatz, Paul, Mlikotic, Anton, Chen, Agnes H, Victoroff, Alla, Passage, Merry B, Madden, Jacqueline, Le, Steven Q, Naylor, David E, Collaborative, for the Mucopolysaccharidosis I Intrathecal Research
المصدر: Molecular Genetics and Metabolism. 116(1-2)
مصطلحات موضوعية: Clinical Research, Clinical Trials and Supportive Activities, Spinal Cord Injury, Neurodegenerative, Mucopolysaccharidoses (MPS), Physical Injury - Accidents and Adverse Effects, Neurosciences, Traumatic Head and Spine Injury, Rare Diseases, Neurological, Adolescent, Adult, Cervix Uteri, Child, Constriction, Pathologic, Female, Humans, Iduronidase, Male, Mucopolysaccharidosis I, Recombinant Proteins, Spinal Canal, Young Adult, Hurler, Scheie, Lysosomal storage disease, Enzyme replacement therapy, Alpha-L-iduronidase, Intrathecal, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/11b4r650
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7دورية أكاديمية
المؤلفون: Tran Mau-Them, F.Aff1, Aff2, Guibaud, L.Aff3, Aff4, Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F.Aff5, Aff7, Aff8, van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T.Aff1, Aff2, Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A.Aff15, Aff16, Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C.Aff1, Aff2, van Gassen, K., Nelson, S., Graham, Jr, J. M., Friedman, J., Faivre, L.Aff2, Aff10, Lin, H. J., Thauvin-Robinet, C.Aff1, Aff10, Vitobello, A.Aff1, Aff2
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):1008-1014
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8دورية أكاديمية
المؤلفون: Chen, Agnes H.
المصدر: In Advances in Pediatrics 2011 58(1):259-276
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9دورية أكاديمية
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10دورية
المؤلفون: Polgreen, Lynda E., Chen, Agnes H., Pak, Youngju, Luzzi, Anna, Morales Garval, Adolfo, Acevedo, Jonathan, Bitan, Gal, Iacovino, Michelina, O’Neill, Cara, Eisengart, Julie B.
المصدر: Nature Medicine; 20240101, Issue: Preprints p1-1, 1p