Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Judith Campos de Barros Bento"'
Publikováno v:
Advances in Rheumatology, Vol 60, Iss 1, Pp 1-8 (2020)
Abstract Background Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining patho
Externí odkaz:
https://doaj.org/article/babafbd9294a4aaf926624bf60451cfd
Autor:
Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Valéria de Falco Caparbo, Rosa Maria Rodrigues Pereira
Publikováno v:
Clinics, Vol 76 (2021)
OBJECTIVES: Fabry disease (FD) is an X-linked lysosomal disease caused by variants of the GLA gene; the formation of defective alpha-galactosidase A contributes to the accumulation of substrates in several organs. Chronic inflammation is thought to c
Externí odkaz:
https://doaj.org/article/b4a8116bb19748f2ab80b85547af4be7
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract 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
Externí odkaz:
https://doaj.org/article/084e7d3f5f1c424884abf03dc5982f8a
Publikováno v:
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://doaj.org/article/fe6aaa8885e94fef84062e66347aca5b
Autor:
Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Valéria de Falco Caparbo, Rosa Maria Rodrigues Pereira
Publikováno v:
Clinics, Volume: 76, Article number: e2643, Published: 16 JUL 2021
Clinics, Vol 76 (2021)
Clinics
Clinics, Vol 76 (2021)
Clinics
OBJECTIVES: Fabry disease (FD) is an X-linked lysosomal disease caused by variants of the GLA gene; the formation of defective alpha-galactosidase A contributes to the accumulation of substrates in several organs. Chronic inflammation is thought to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f243ab1cac45a1370ae140f7510c336c
https://pubmed.ncbi.nlm.nih.gov/34287477
https://pubmed.ncbi.nlm.nih.gov/34287477
Publikováno v:
Advances in Rheumatology; 1/6/2020, Vol. 60 Issue 1, p1-8, 8p