المؤلفون: Horovitz, Dafne Dain Gandelman, Acosta, Angelina X., Giugliani, Roberto, Hlavata, Anna, Hlavata, Katarina, Tchan, Michel C., Barth, Anneliese Lopes, Cardoso Jr., Laercio, Leao, Emilia Katiane Embirucu de Araujo, Esposito, Ana Carolina, Kyosen, Sandra Obikawa UNIFESP, Souza, Carolina Fischinger Moura de, Martins, Ana Maria UNIFESP

مصطلحات موضوعية: Enzyme replacement therapy, alpha-L-iduronidase deficiency, Clinical outcomes, Tolerability

جغرافية الموضوع: London

وصف الملف: application/pdf

العلاقة: Orphanet Journal Of Rare Diseases; http://dx.doi.org/10.1186/s13023-016-0437-8Test; Orphanet Journal Of Rare Diseases. London, v. 11, p. -, 2016.; https://repositorioTest.unifesp.br/handle/11600/56035; WOS000375109300001.pdf; WOS:000375109300001

الإتاحة: https://doi.org/10.1186/s13023-016-0437-8Test
https://repositorioTest.unifesp.br/handle/11600/56035

المؤلفون: Harmatz, Paul R., Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John J., Martins, Ana Maria UNIFESP, Jones, Simon A., Guelbert, Norberto, Vellodi, Ashok, Wijburg, Frits A., Yang, Ke, Slasor, Peter, Decker, Celeste

المساهمون: UCSF Benioff Childrens Hosp Oakland, MC Univ Mainz, Dept Genet UFRGS, INAGEMP, Hop Univ Necker Enfants Malad, Mackay Mem Hosp, Mackay Med Coll, San Gerardo Univ Hosp, Hop Femme Mere Enfant, Ann & Robert H Lurie Childrens Hosp, Northwestern Univ, Birmingham Childrens Hosp NHS Fdn Trust, McGill Univ, Universidade Federal de São Paulo (UNIFESP), Univ Manchester, Hosp Ninos Cordoba, Great Ormond St Hosp Children NHS Fdn Trust, Univ Amsterdam, BioMarin Pharmaceut Inc

مصطلحات موضوعية: Morquio A, Mucopolysaccharidosis IVA, MPS IVA, Longitudinal analysis, Endurance, 6 minute walk test

وصف الملف: 186-194; application/pdf

العلاقة: Molecular Genetics and Metabolism; http://dx.doi.org/10.1016/j.ymgme.2014.10.015Test; Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 114, n. 2, p. 186-194, 2015.; http://repositorioTest.unifesp.br/handle/11600/38653; WOS000348973100305.pdf; WOS:000348973100305

الإتاحة: https://doi.org/10.1016/j.ymgme.2014.10.015Test
http://repositorioTest.unifesp.br/handle/11600/38653

المؤلفون: Martins, Ana Maria UNIFESP, Kyosen, Sandra Obikawa UNIFESP, Garrote, J. UNIFESP, Marques, Fabricio Machado V., Guilhem, J. G., Macedo, Eliane, Sobral Neto, José, Ura, Somei

المساهمون: Universidade Federal de São Paulo (UNIFESP), Hosp Santo Antonio, Inst Hemodialise Sorocaba, Ctr Infusao Doencas Raras, Ctr Avaliacao Cardiol, Universidade de São Paulo (USP)

مصطلحات موضوعية: Fabry disease, Alpha-galactosidase A deficiency, Fabry Registry, Brazil, Demographics

وصف الملف: 136-142

العلاقة: Genetics and Molecular Research; http://dx.doi.org/10.4238/2013.January.24.5Test; Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 12, n. 1, p. 136-142, 2013.; http://repositorioTest.unifesp.br/handle/11600/35749; WOS:000318864400015

الإتاحة: https://doi.org/10.4238/2013.January.24.5Test
http://repositorioTest.unifesp.br/handle/11600/35749

المؤلفون: Horovitz, Dafne D. G., Magalhaes, Tatiana S. P. C., Acosta, Angelina, Ribeiro, Erlane M., Giuliani, Liane R., Palhares, Durval B., Kim, Chong A., Paula, Ana Carolina de, Kerstenestzy, Marcelo, Pianovski, Mara A. D., Costa, Maria Ione F., Santos, Francisca C., Martins, Ana Maria UNIFESP, Aranda, Carolina Sanchez UNIFESP, Correa Neto, Jordao, Moreira Holanda, Gervina Brady, Cardoso, Laercio, Silva, Carlos A. B. da, Bonatti, Renata C. F., Ribeiro, Bethania F. R., Rodrigues, Maria do Carmo S., Llerena, Juan C.

المساهمون: Fiocruz MS, Universidade Federal da Bahia (UFBA), Hosp Albert Sabin, Universidade Federal de Mato Grosso do Sul (UFMS), Universidade de São Paulo (USP), Hosp Barao de Lucena, Univ Fed Parana, Ctr Reabilitacao Infantil, Hosp Univ Maranhao, Universidade Federal de São Paulo (UNIFESP), Univ Fed Rio Grande do Norte, Univ Fortaleza, Univ Fed Triangulo Mineiro, Hosp Clin Acre, Univ Fed Espirito Santo

مصطلحات موضوعية: Mucopolysaccharidosis VI, MPS VI, Lysosomal storage disorder, Galsulfase, Enzyme replacement therapy, Pediatric

وصف الملف: 62-69; application/pdf

العلاقة: Molecular Genetics and Metabolism; http://dx.doi.org/10.1016/j.ymgme.2013.02.014Test; Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 62-69, 2013.; http://repositorioTest.unifesp.br/handle/11600/36234; WOS000318055100011.pdf; WOS:000318055100011

الإتاحة: https://doi.org/10.1016/j.ymgme.2013.02.014Test
http://repositorioTest.unifesp.br/handle/11600/36234

المؤلفون: Savegnago, Alana Karla UNIFESP, Silva, Rosangela Maria da UNIFESP, Jonhston, Cíntia UNIFESP, Martins, Ana Maria UNIFESP, Melo, Ana Paula L. de UNIFESP, Carvalho, Werther Brunow de UNIFESP

المساهمون: Universidade Federal de São Paulo (UNIFESP), Universidade de São Paulo (USP)

مصطلحات موضوعية: glycogen storage disease type II, activities of daily living, evaluation, doença de depósito de glicogênio tipo II, atividades cotidianas, avaliação

وصف الملف: 272-277; application/pdf

العلاقة: Revista Paulista de Pediatria; http://dx.doi.org/10.1590/S0103-05822012000200018Test; Revista Paulista de Pediatria. Sociedade de Pediatria de São Paulo, v. 30, n. 2, p. 272-277, 2012.; http://repositorioTest.unifesp.br/handle/11600/7173; S0103-05822012000200018.pdf; S0103-05822012000200018

الإتاحة: https://doi.org/10.1590/S0103-05822012000200018Test
http://repositorioTest.unifesp.br/handle/11600/7173

المؤلفون: Müller, Karen Barbosa UNIFESP, Galdieri, Luciano C. UNIFESP, Pereira, Vanessa Gonçalves UNIFESP, Martins, Ana Maria UNIFESP, D'Almeida, Vânia UNIFESP

المساهمون: Universidade Federal de São Paulo (UNIFESP)

مصطلحات موضوعية: inborn errors of metabolism, Fabry Disease, homocysteine, oxidative stress

وصف الملف: 418-423; application/pdf

العلاقة: Genetics and Molecular Biology; http://dx.doi.org/10.1590/S1415-47572012005000031Test; Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 35, n. 2, p. 418-423, 2012.; http://repositorioTest.unifesp.br/handle/11600/6879; S1415-47572012000300006.pdf; S1415-47572012000300006; WOS:000305580300006

الإتاحة: https://doi.org/10.1590/S1415-47572012005000031Test
http://repositorioTest.unifesp.br/handle/11600/6879

المؤلفون: Munoz-Rojas, Maria Veronica, Bay, Luisa, Sanchez, Luz, van Kuijck, Marcel, Ospina, Sandra, Francisco Cabello, Juan, Martins, Ana Maria UNIFESP

المساهمون: Hosp Nacl Pediat JP Garrahan, Hosp Especialidades UMAE 25, Genzyme Corp, Univ Rosario, Univ Valparaiso, Univ Chile, Universidade Federal de São Paulo (UNIFESP)

وصف الملف: 1029-1037; application/pdf

العلاقة: Journal of Inherited Metabolic Disease; http://dx.doi.org/10.1007/s10545-011-9336-2Test; Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 34, n. 5, p. 1029-1037, 2011.; http://repositorioTest.unifesp.br/handle/11600/34064; WOS000297749500007.pdf; WOS:000297749500007

الإتاحة: https://doi.org/10.1007/s10545-011-9336-2Test
http://repositorioTest.unifesp.br/handle/11600/34064

المؤلفون: Watt, Torquil, Burlina, Alessandro P., Cazzorla, Chiara, Schoenfeld, Dorothee, Banikazemi, Maryam, Hopkin, Robert J., Martins, Ana Maria UNIFESP, Sims, Katherine, Beitner-Johnson, Dana, O'Brien, Fanny, Feldt-Rasmussen, Ulla

المساهمون: Natl Univ Hosp, San Bassano Hosp, Univ Padua, Univ Wurzburg, Columbia Univ, Cincinnati Childrens Hosp, Universidade Federal de São Paulo (UNIFESP), Massachusetts Gen Hosp, Genzyme Corp

مصطلحات موضوعية: lysosomal storage disease, alpha galactosidase A deficiency, SF-36 (R) Health Survey, enzyme replacement therapy, health status indicator

وصف الملف: 703-712

العلاقة: Genetics in Medicine; http://dx.doi.org/10.1097/GIM.0b013e3181f13a4aTest; Genetics in Medicine. Philadelphia: Lippincott Williams & Wilkins, v. 12, n. 11, p. 703-712, 2010.; http://repositorioTest.unifesp.br/handle/11600/33008; WOS:000284105800007

الإتاحة: https://doi.org/10.1097/GIM.0b013e3181f13a4aTest
http://repositorioTest.unifesp.br/handle/11600/33008

المؤلفون: Weinreb, Neal J., Cappellini, Maria D., Cox, Timothy M., Giannini, Edward H., Grabowski, Gregory A., Hwu, Wuh-Liang, Mankin, Henry, Martins, Ana Maria UNIFESP, Sawyer, Carolyn, vom Dahl, Stephan, Yeh, Michael S., Zimran, Ari

المساهمون: Univ Res Fdn Lysosomal Storage Disorders, Univ Milan, Univ Cambridge, Cincinnati Childrens Hosp, Natl Taiwan Univ Hosp, Massachusetts Gen Hosp, Universidade Federal de São Paulo (UNIFESP), Genzyme Corp, St Franziskus Hosp, Shaare Zedek Med Ctr

مصطلحات موضوعية: Gaucher disease, severity scoring, inherited metabolic disorders, DS3, acid beta-glucosidase

وصف الملف: 44-51

العلاقة: Genetics in Medicine; http://dx.doi.org/10.1097/GIM.0b013e3181c39194Test; Genetics in Medicine. Philadelphia: Lippincott Williams & Wilkins, v. 12, n. 1, p. 44-51, 2010.; http://repositorioTest.unifesp.br/handle/11600/32026; WOS:000274095300007

الإتاحة: https://doi.org/10.1097/GIM.0b013e3181c39194Test
http://repositorioTest.unifesp.br/handle/11600/32026

المؤلفون: Giugliani, Roberto, Federhen, Andressa, Munoz Rojas, Maria Verônica, Vieira, Taiane Alves, Artigalás, Osvaldo, Pinto, Louise Lapagesse Carmargo, Azevedo, Ana Cecília, Acosta, Angelina Xavier, Bomfim, Carmem, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Souza, Denize Bomfim, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia Ribeiro, Guarany, Fábio, De Lucca, Gisele Rosone, Pimentel, Helena, Souza, Isabel Neves de, Corrêa Neto, Jordão UNIFESP, Fraga, José Carlos, Góes, José Eduardo, Cabral, José Maria, Simeonato, José, Llerena Junior, Juan Clinton, Jardim, Laura Bannach, Giuliani, Liane De Rosso, Silva, Luiz Carlos Santana da, Santos, Mara, Moreira, Maria Ângela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina Fishinger Moura de, Alcântara, Flavio F, Avilla, Sylvio Gilberto A, Fagondes, Simone, Martins, Ana Maria UNIFESP

المساهمون: Universidade Federal do Rio Grande do Sul Departamento de Genética, Instituto Nacional de Genética Médica Populacional Centro Colaborador da OMS para o Desenvolvimento de Serviços de Genética Médica na América Latina e Coordenador, Hospital das Clínicas de Porto Alegre Grupo de Pesquisa Clínica em Genética Médica, Universidade Federal do Rio Grande do Sul Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Grupo Hospitalar Conceição, Prefeitura Municipal de Gravataí, Universidade Federal da Bahia Departamento de Pediatria, Universidade Federal do Paraná Hospital de Clínicas Serviço de Transplante de Medula Óssea, Universidade de São Paulo (USP), FIOCRUZ Instituto Fernandes Figueira Centro de Genética Médica, Hospital Universitário, PUC Faculdade de Medicina, Hospital de Clínicas de Porto Alegre Serviço de Oftalmologia, Universidade Federal do Mato Grosso do Sul Departamento de Pediatria, Universidade Estadual de Ciências da Saúde de Alagoas, Faculdade de Medicina de Juazeiro do Norte, Universidade Federal de Minas Gerais Departamento de Pediatria, Hospital de Clínicas de Porto Alegre Serviço de Fisiatria, Hospital Infantil Joana de Gusmão, APAE, Universidade Federal do Pará, Hospital do Servidor Público Estadual, Universidade Federal do Rio Grande do Sul Departamento de Cirurgia, Universidade Federal do Amazonas Departamento de Cirurgia, Hospital Infantil, Universidade Federal do Rio Grande do Sul Departamento de Medicina Interna, Universidade Federal do Pará Instituto de Ciências Biológicas, Hospital Infantil Pequeno Príncipe, Hospital de Clínicas de Porto Alegre Serviço de Pneumologia, Hospital da Restauração, Universidade Federal do Rio de Janeiro Departamento de Pediatria, Hospital de Clínicas de Porto Alegre, Hospital de Clínicas de Porto Alegre Serviço de Cardiologia, Hospital Evangélico, Universidade Estadual do Rio de Janeiro, Universidade Federal de São Paulo (UNIFESP)

مصطلحات موضوعية: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI, Glycosaminoglycans V, Enzyme replacement therapy, Mucopolissacaridoses, Mucopolissacaridose I, Mucopolissacaridose II, Mucopolissacaridose VI, Glicosaminoglicanos, Terapia de reposição enzimática

وصف الملف: 271-277; application/pdf

العلاقة: Revista da Associação Médica Brasileira; http://dx.doi.org/10.1590/S0104-42302010000300009Test; Revista da Associação Médica Brasileira. Associação Médica Brasileira, v. 56, n. 3, p. 271-277, 2010.; http://repositorioTest.unifesp.br/handle/11600/5499; S0104-42302010000300009.pdf; S0104-42302010000300009; WOS:000279678100008

الإتاحة: https://doi.org/10.1590/S0104-42302010000300009Test
http://repositorioTest.unifesp.br/handle/11600/5499