Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Nilton S. Rosa Neto"'
Autor:
Roberto Giugliani, Sandra Marques, Luis G. M. de Andrade, André Pessoa, Maria H. Vaisbich, Angélica Blum, Fernanda Tenório, Nilton S Rosa Neto
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
ABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patien
Externí odkaz:
https://doaj.org/article/324b0a1a1b7d4de8903b6b70ee88491c
Publikováno v:
Advances in Rheumatology, Vol 60, Iss 1, Pp 1-8 (2020)
Advances in Rheumatology, Volume: 60, Article number: 07, Published: 13 JAN 2020
Advances in Rheumatology, Volume: 60, Article number: 07, Published: 13 JAN 2020
BackgroundFabry disease (FD) is an X-linked lysosomal disorder due to mutations in theGLAgene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51be09d74a606e3d4f63a0231c2aaf23
https://doaj.org/article/babafbd9294a4aaf926624bf60451cfd
https://doaj.org/article/babafbd9294a4aaf926624bf60451cfd
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210016, Published: 14 JUN 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210016, Published: 14 JUN 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Background Fabry disease (FD) is caused by pathogenic variants in the GLA gene. A143T and R118C variants are considered not disease causing. Patient-reported outcomes provide information concerning the effects of their disease but should be carefully
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3192041d33ecb5a2cbebb494d5f51917
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100316&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100316&tlng=en
Autor:
Samuel Katsuyuki Shinjo, Nilton S. Rosa Neto, Mauricio Levy-Neto, Rosa Maria Rodrigues Pereira
Publikováno v:
Rheumatology International. 37:1065-1073
Takayasu arteritis (TA) is an idiopathic chronic inflammatory disease that affects the aorta and its main branches. According to disease involvement, patients may require surgical treatment mainly due ischemic lesions in association with medical ther
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1faecca76150f797e4f46cb6550cf0e5
https://doi.org/10.1007/s00296-017-3656-y
https://doi.org/10.1007/s00296-017-3656-y
Publikováno v:
Molecular Genetics and Metabolism. 129:S138-S139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d7490761c5134800835dfcc51f445db
https://doi.org/10.1016/j.ymgme.2019.11.364
https://doi.org/10.1016/j.ymgme.2019.11.364
Autor:
Nilton S. Rosa Neto, Liliam Takayama, Judith C.B. Bento, Rosa Maria Rodrigues Pereira, Valeria F. Caparbo
Publikováno v:
Molecular Genetics and Metabolism. 129:S139-S140
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41c1c8ba9c641d875b8e32832dc2194f
https://doi.org/10.1016/j.ymgme.2019.11.367
https://doi.org/10.1016/j.ymgme.2019.11.367
Publikováno v:
Molecular Genetics and Metabolism. 129:S137-S138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::becca25b94c8e37ffd3f140a698266bc
https://doi.org/10.1016/j.ymgme.2019.11.361
https://doi.org/10.1016/j.ymgme.2019.11.361
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Background: Fabry disease (FD) is a lysosomal disease in which mutations affect the GLA gene located on the X chromosome. The defective product, the enzyme alpha-galactosidase A, causes accumulation of substrate and contributes to the disruption of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d88f3948f7fa965ad5ae5009310f1c0e
https://doi.org/10.1016/j.ymgmr.2019.100547
https://doi.org/10.1016/j.ymgmr.2019.100547
Publikováno v:
Molecular Genetics and Metabolism. 129:S138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f8260a8fe21b29f9f945f8512d09d7d
https://doi.org/10.1016/j.ymgme.2019.11.363
https://doi.org/10.1016/j.ymgme.2019.11.363
Autor:
Nilton S. Rosa Neto, Cristiane B. Dias
Publikováno v:
Molecular Genetics and Metabolism. 129:S140
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da264f3359837fface56ca17456479ee
https://doi.org/10.1016/j.ymgme.2019.11.368
https://doi.org/10.1016/j.ymgme.2019.11.368