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1دورية أكاديمية
المؤلفون: Treadwell, Marsha, Harmatz, Paul R., Burton, Barbara K., Mitchell, John J., Muschol, Nicole, Jones, Simon A., Pastores, Gregory M., Lau, Heather A., Sparkes, Rebecca, Sutton, V. Reid, Meesen, Bianca, Haller, Christine A., Shaywitz, Adam J., Gold, Jeffrey I.
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2017 5
مصطلحات موضوعية: Morquio A syndrome, chronic pain, ysosomal storage diseases, galactosamine-6-sulfatase, enzyme replacement therapy, elosulfase alfa
وصف الملف: text/html
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2دورية أكاديمية
المؤلفون: Hendriksz, Christian J., Muenzer, Joseph, Burton, Barbara K., Pan, Luying, Wang, Nan, Naimy, Hicham, Pano, Arian, Barbier, Ann J.
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2015 3
مصطلحات موضوعية: cerebrospinal fluid, glycosaminoglycan levels, lumbar puncture, mucopolysaccharidosis II, cognitive impairment
وصف الملف: text/html
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3دورية أكاديميةGenotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
المؤلفون: Muenzer, Joseph, Amartino, Hernan, Burton, Barbara K., Scarpa, Maurizio, Tylki-Szymańska, Anna, Audi, Jennifer, Botha, Jaco, Fertek, Daniel, Merberg, David, Natarajan, Madhusudan, Whiteman, David A.H., Giugliani, Roberto
المصدر: In Molecular Genetics and Metabolism September-October 2024 143(1-2)
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4دورية أكاديمية
المؤلفون: Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, Muschol, Nicole
المصدر: In Molecular Genetics and Metabolism August 2024 142(4)
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5دورية أكاديمية
المؤلفون: Harding, Cary O., Longo, Nicola, Northrup, Hope, Sacharow, Stephanie, Singh, Rani, Thomas, Janet A., Vockley, Jerry, Zori, Roberto T., Bulloch Whitehall, Kaleigh, Lilienstein, Joshua, Lindstrom, Kristin, Levy, Drew G., Jones, Shaun, Burton, Barbara K.
المصدر: In Molecular Genetics and Metabolism Reports June 2024 39
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6دورية أكاديمية
المؤلفون: Muenzer, JosephAff1, IDs13023023028053_cor1, Burton, Barbara K., Amartino, Hernan M., Harmatz, Paul R., Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Wu, Yuna, Merberg, David, Alexanderian, DavidAff7, Aff9, Jones, Simon A.
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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7دورية أكاديمية
المؤلفون: Burton, Barbara K., Clague, Gillian E., Harding, Cary O., Kucuksayrac, Ece, Levy, Drew G., Lindstrom, Kristin, Longo, Nicola, Maillot, François, Muntau, Ania C., Rutsch, Frank, Zori, Roberto T.
المصدر: In Molecular Genetics and Metabolism January 2024 141(1)
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8دورية أكاديمية
المؤلفون: Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K
المصدر: Orphanet Journal of Rare Diseases. 16(1)
مصطلحات موضوعية: Digestive Diseases, Mucopolysaccharidoses (MPS), Pediatric, Clinical Research, Orphan Drug, Rare Diseases, Child, Enzyme Replacement Therapy, Humans, Iduronate Sulfatase, Infant, Male, Mucopolysaccharidosis II, Treatment Outcome, MPS II, Hunter syndrome, Lysosomal storage disease, Statistical modeling, Disease registry, Idursulfase, Enzyme replacement therapy, Other Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3dd654xj
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المؤلفون: Burton, Barbara K., Daly, Anne
نوع المادة: eBook.
الموضوعات: Metabolic disorders in children, Fatty acids
تصنيفات: MEDICAL / Endocrinology & Metabolism
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