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1دورية أكاديمية
المؤلفون: Lau, Heather, Botha, Jaco, Audi, Jennifer, Link, Bianca, Harmatz, Paul
مصطلحات موضوعية: Enzyme replacement therapy, Hunter Outcome Survey, Mucopolysaccharidosis type II, Neuronopathic phenotype, Non-neuronopathic phenotype, Surgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/15557860Test
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2دورية أكاديمية
المؤلفون: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Mucopolysaccharidosis type II, Hunter syndrome, Caregiver-reported outcomes, Pabinafusp alfa, Treatment experience, Quality of life, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Grant, Nathan, Sohn, Young Bae, Ellinwood, N Matthew, Okenfuss, Ericka, Mendelsohn, Bryce A, Lynch, Leslie E, Braunlin, Elizabeth A, Harmatz, Paul R, Eisengart, Julie B
مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Clinical Research, Behavioral and Social Science, Rare Diseases, Brain Disorders, Pediatric, Mental health, Newborn screening, Mucopolysaccharidosis type II, Hunter syndrome, Enzyme replacement therapy, Early intervention, Sibling study, ABR, Auditory brainstem response, CNS, central nervous system, DAS-II, Differential Ability Scales, Second Edition, ERT, enzyme replacement therapy, GAG, glycosaminoglycan, HCT, hematopoietic cell transplantation, IDS, iduronate-2-sulphatase, IT, intrathecal, MPS II, mucopolysaccharidosis type II, Hunter syndrome, MPS, mucopolysaccharidosis, MRI, magnetic resonance imaging, NBS, newborn screening, RUSP, Recommended Uniform Screening Panel, Biochemistry and Cell Biology, Genetics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/20p620zvTest
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4دورية أكاديمية
المؤلفون: Miles C. Smith, Lalitha R. Belur, Andrea D. Karlen, Olivia Erlanson, Justin Furcich, Troy C. Lund, Davis Seelig, Kelley F. Kitto, Carolyn A. Fairbanks, Kwi Hye Kim, Nick Buss, R. Scott McIvor
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101201- (2024)
مصطلحات موضوعية: mucopolysaccharidosis type II, MPS II, Hunter syndrome, gene therapy, adeno-associated virus, dose-ranging study, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050124000172Test; https://doaj.org/toc/2329-0501Test
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5دورية أكاديمية
المؤلفون: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
مصطلحات موضوعية: Medicine, Genetics, Pharmacology, Immunology, Cancer, Mental Health, Mucopolysaccharidosis type II, Hunter syndrome, Caregiver-reported outcomes, Pabinafusp alfa, Treatment experience, Quality of life, Qualitative caregiver interviews
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6دورية أكاديمية
المؤلفون: Fabio Catalano, Eva C. Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F. Huizer, Jeroen C. van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J.M.P. van den Hout, Esmeralda Oussoren, George J.G. Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101149- (2023)
مصطلحات موضوعية: Hunter disease, mucopolysaccharidosis type II, lentiviral gene therapy, IDS, IGF2, ApoE2, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050123001882Test; https://doaj.org/toc/2329-0501Test
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7دورية أكاديمية
المؤلفون: Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101005- (2023)
مصطلحات موضوعية: Mucopolysaccharidosis type II, Hunter Outcome Survey, Enzyme replacement therapy, Surgery, Neuronopathic phenotype, Non-neuronopathic phenotype, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000514Test; https://doaj.org/toc/2214-4269Test
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8دورية أكاديمية
المؤلفون: Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101003- (2023)
مصطلحات موضوعية: Enzyme replacement therapy, Mucopolysaccharidosis type II, Iduronate-2-sulfatase, Newborn screening, Hunter syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000496Test; https://doaj.org/toc/2214-4269Test
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9دورية أكاديمية
المؤلفون: Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte, Paulo Gaspar, Hugo Rocha, Marisa Encarnação, Diogo Ribeiro, Matilde Barbosa Almeida, Mariana Gonçalves, Hugo David, Liliana Matos, Olga Amaral, Luísa Diogo, Sara Ferreira, Constança Santos, Esmeralda Martins, Maria João Prata, Luís Pereira de Almeida, Sandra Alves, Maria Francisca Coutinho
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 6, p 3546 (2024)
مصطلحات موضوعية: mucopolysaccharidosis type II, disease modeling, in vitro models, induced pluripotent stem cells (iPSCs), dental pulp stem cells (DPSCs), stem cells from human exfoliated deciduous teeth (SHEDs), Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/6/3546Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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10دورية أكاديمية
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
مصطلحات موضوعية: Mucopolysaccharidosis Type II, SUS, ICD-10 E76.1, Idursulfase, Hunter Syndrome, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100306&tlng=enTest; https://doaj.org/toc/2326-4594Test