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1دورية أكاديمية
المؤلفون: Poswar, Fabiano de Oliveira, Santos, Hallana Souza, Santos, Ângela Barreto Santiago, Berger, Solano Vinicius, Souza, Carolina Fischinger Moura de, Giugliani, Roberto, Baldo, Guilherme
مصطلحات موضوعية: Mucopolissacaridoses, Terapia de reposição de enzimas, Hipertensão pulmonar, Átrios do coração, Hipertrofia ventricular esquerda, Mucopolysaccharidoses, Enzyme replacement therapy, Pulmonary hypertension, Left ventricular hypertrophy, Left atrium, Heart valve disease
وصف الملف: application/pdf
العلاقة: Frontiers in cardiovascular medicine. Lausanne. Vol. 8 (2022), 801147, 11 p.; http://hdl.handle.net/10183/245594Test; 001145356
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2دورية أكاديمية
المؤلفون: Beck, Michael, Ramaswami, Uma, Hernberg-Stahl, E., Hughes, Derralynn A., Kampmann, Christoph, Mehta, Atul B., Nicholls, Kathleen M., Niu, Dauming, Pintos-Morell, G., Reisin, Ricardo, West, Michael L., Schenk, Jörn Magnus, Anagnostopoulou, Christina, Botha, Jaco, Giugliani, Roberto
مصطلحات موضوعية: Terapia de reposição de enzimas, Doenças por armazenamento dos lisossomos, Doença de Fabry, Agalsidase alfa, Enzyme replacement therapy, Fabry disease, Cardiovascular outcomes, Renal outcomes
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 238, 14 p.; http://hdl.handle.net/10183/245631Test; 001145438
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3دورية أكاديمية
المؤلفون: Wasserstein, Melissa P., Giugliani, Roberto, Kumar, Monica
مصطلحات موضوعية: Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type B, Niemann-Pick type A/B, Organomegaly, Recombinant human acid sphingomyelinase, Doenças de Niemann-Pick, Terapia de reposição de enzimas
وصف الملف: application/pdf
العلاقة: Genetics in medicine. New York. Vol. 24 (2021), p. 1425–1436.; http://hdl.handle.net/10183/245616Test; 001145570
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4دورية أكاديمية
المؤلفون: Ferreira, Danielle Portella, Chaves, Célia Regina Moutinho de Miranda, Costa, Ana Carolina Carioca da
المصدر: Ciência & Saúde Coletiva. December 2019 24(12)
مصطلحات موضوعية: Adesão à medicação, Fibrose cística e terapia de reposição de enzimas
وصف الملف: text/html
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5دورية أكاديمية
المؤلفون: Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.
مصطلحات موضوعية: Mucopolissacaridose II, Doenças por armazenamento dos lisossomos, Modelos estatísticos, Prognóstico, Tratamento farmacológico, Terapia de reposição de enzimas, Mucopolysaccharidosis II, MPS II, Hunter syndrome, Lysosomal storage disease, Statistical modeling, Disease registry, Idursulfase, Enzyme replacement therapy
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 16 (2021), 456, 14 p.; http://hdl.handle.net/10183/234528Test; 001135869
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6دورية أكاديمية
المؤلفون: Dornelles, Alícia Dorneles, Junges, Ana Paula Pedroso, Pereira, Tiago da Veiga, Krug, Bárbara Côrrea, Gonçalves, Candice Beatriz Treter, Llerena Junior, Juan Clinton, Kishnani, Priya Sunil, Oliveira Junior, Haliton Alves de
مصطلحات موضوعية: Doença de depósito de glicogênio tipo II, Alfa-glucosidases, Terapia de reposição de enzimas, Pompe disease, Alpha-glucosidase, Enzyme replacement therapy, Glycogen storage disease type II
وصف الملف: application/pdf
العلاقة: Journal of clinical medicine. Basel. Vol. 10, no. 21 (2021), 4828, 19 p.; http://hdl.handle.net/10183/252513Test; 001153777
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7دورية أكاديمية
المؤلفون: Diaz, George A., Jones, Simon A., Scarpa, Maurizio, Mengel, Karl Eugen, Giugliani, Roberto, Guffon, Nathalie, Batsu, Isabela, Fraser, Patricia A., Jing, Li, Qi, Zhang, Renon, Catherine Ortemann
مصطلحات موضوعية: Terapia de reposição de enzimas, Doenças de Niemann-Pick, Criança
وصف الملف: application/pdf
العلاقة: Genetics in medicine. New York. Vol. 23 (2021), p. 1543–1550.; http://hdl.handle.net/10183/234517Test; 001135853
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8دورية أكاديمية
المؤلفون: Giugliani, Roberto, Martins, Ana Maria (Medicina), So, Sairei, Yamamoto, Tatsuyoshi, Yamaoka, Mariko, Ikeda, Toshiaki, Tanizawa, Kazunori, Sonoda, Hiroyuki, Schmidt, Mathias, Sato, Yuji
مصطلحات موضوعية: Mucopolissacaridose II, Iduronato sulfatase, Disfunção cognitiva, Heparitina sulfato, Terapia de reposição de enzimas, Mucopolysaccharidosis II, Hunter syndrome, Pabinafusp alfa, JR-141, Blood-brain barrier, Iduronate-2-sulfatase, Neurocognitive impairment, Anti-human transferrin receptor antibody, Heparan sulfate, Enzyme-replacement therapy
وصف الملف: application/pdf
العلاقة: Molecular therapy : the journal of the American Society of Gene Therapy. San Diego. Vol. 29, no. 7 (2021), p. 2378-2386.; http://hdl.handle.net/10183/234518Test; 001135970
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9دورية أكاديمية
المؤلفون: Giugliani, Roberto, Martins, Ana Maria (Medicina), Okuyama, Torayuki, Eto, Yoshikatsu, Sakai, Norio, Nakamura, Kimitoshi, Morimoto, Hideto, Minami, Kohtato, Yamamoto, Tatsuyoshi, Yamaoka, Mariko, Ikeda, Toshiaki, So, Sairei, Tanizawa, Kazunori, Sonoda, Hiroyuki, Schmidt, Mathias, Sato, Yuji
مصطلحات موضوعية: Neuronopathic mucopolysaccharidosis, Hunter syndrome, Mucopolysaccharidosis II, Iduronate-2-sulfatase, Enzyme replacement therapy, Neurodegeneration, Neurocognitive impairment, Pabinafusp alfa, Blood–brain barrier, Mucopolissacaridose II, Terapia de reposição de enzimas, Iduronato sulfatase, Disfunção cognitiva
وصف الملف: application/pdf
العلاقة: International journal of molecular sciences. Basel. Vol. 22 (2021), 10938, 15 p.; http://hdl.handle.net/10183/234494Test; 001136217
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10دورية أكاديمية
المؤلفون: Mehta, Atul B., Ramaswami, Uma, Muenzer, Joseph, Giugliani, Roberto, Ullrich, Kurt, Histed, Tanya Collin, Panahloo, Zoya, Wellhoefer, Hartmann, Frader, Joel
مصطلحات موضوعية: Doença de Gaucher, Doença de Fabry, Doenças por armazenamento dos lisossomos, Terapia de reposição de enzimas, Gaucher disease, Fabry disease, Hunter syndrome, MPS II, Access, Lysosomal storage disorders, Enzyme replacement therapy, Low/middle income economies, Humanitarian
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 16 (2021), 8, 10 p.; http://hdl.handle.net/10183/220781Test; 001123202