Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Patrício Aguiar"'
Autor:
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Sridhar R. Allam, Yin-Hsiu Chien, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Derralynn A. Hughes
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to
Externí odkaz:
https://doaj.org/article/95cf0962320c4c5da4b8e36cf0ea24fc
Autor:
Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West, Sandro Feriozzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Background Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based o
Externí odkaz:
https://doaj.org/article/66f3ce4b9015408285a03a7d52421b7d
Autor:
Nuno Lopes, Maria L. Maia, Cátia S. Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria F. Coutinho, Sandra Alves, M. Fátima Macedo
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1699 (2023)
Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, l
Externí odkaz:
https://doaj.org/article/9e4cc5daa22a4ece9b66e7cefb167977
Autor:
David Cordeiro Sousa, Inês Leal, Susana Moreira, Sónia do Vale, Ana S. Silva-Herdade, Patrício Aguiar, Patrícia Dionísio, Luís Abegão Pinto, Miguel A. R. B. Castanho, Carlos Marques-Neves
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
IntroductionOptical coherence tomography angiography (OCT-A) is a novel diagnostic tool with increasing applications in ophthalmology clinics that provides non-invasive high-resolution imaging of the retinal microvasculature. Our aim is to report in
Externí odkaz:
https://doaj.org/article/e46e80d2c0284def943c551624706efe
Autor:
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Carlos Cardoso, Nuno Sousa, Damião Cunha, Derralynn Hughes, José Luís Ducla Soares
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 7, Iss 6 (2018)
BackgroundCardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial
Externí odkaz:
https://doaj.org/article/3bd80d42c1504cdd8da40d77e4cefa40
Autor:
Patrício Aguiar, Diogo Cruz, Rita Ferro Rodrigues, Lígia Peixoto, Francisco Araújo, José Luís Ducla Soares
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 32, Iss 4, Pp 331-335 (2013)
Resumo: A associação entre hipocalcemia e insuficiência cardíaca é rara. Na literatura existem poucos casos descritos com esta associação, tendo-se estabelecido a entidade miocardiopatia hipocalcémica.Relata-se o caso de uma mulher, de 61 ano
Externí odkaz:
https://doaj.org/article/c0ddbea1aee743d0ba14a0567b578215
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 32, Iss 2, Pp 153-157 (2013)
Resumo: Relata-se o caso de um homem, 35 anos, internado por insuficiência cardíaca, que, desde a infância, apresenta quadro de défice cognitivo moderado, dismorfias faciais, epilepsia, crises de pânico e cardiopatia (estenose aórtica subvalvul
Externí odkaz:
https://doaj.org/article/403aebf6f7f741b9b377c3a5fbf0c753
Publikováno v:
Acta Médica Portuguesa, Vol 29, Iss 2 (2016)
n/a
Externí odkaz:
https://doaj.org/article/734f06157be540478bebe2b5df3f9c76
Autor:
Lígia Peixoto, Patrício Aguiar, Raquel de Bragança, Joana Rosa Martins, Alba Janeiro Acabado, José Luís Ducla-Sores
Publikováno v:
Acta Médica Portuguesa, Vol 28, Iss 3 (2015)
Introdução: A cistatina C possui uma correlação superior com a taxa de filtrado glomerular e um prognóstico clínico mais significativo do que a creatinina. Procurou-se averiguar se constitui um marcador de função renal diferente da creatinina
Externí odkaz:
https://doaj.org/article/cceb6f29ede14cdebd1b6548aafa0aba
Autor:
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Publikováno v:
Diseases, Vol 5, Iss 2, p 15 (2017)
Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagn
Externí odkaz:
https://doaj.org/article/aea33f09b9af41529ea74e9a1b2bf315