4 documents found, page 1 of 1
[Is it Fabry Disease? Diagnostic and Follow-Up Approach]
Beirao, I.; Cabrita, A.; Torres, M.; Silva, F.; Aguiar, P.; Gomes, A.
Anderson-Fabry disease: Ten-year outcome of enzyme replacement therapy in a ren...
Santos, S.; Campos, A.; Beirao, I.Anderson‑Fabry disease (AFd) is a rare disorder characterised by the deficiency or absence of lysosomal enzymatic alpha‑galactosidase A activity (α‑Gal A) that leads to progressive and systemic accumulation of glycosphingolipids. The clinical manifestations are variable but kidney disease usually manifests before the fourth decade of life and chronic renal failure rapidly progresses to end‑stage renal disease (...
Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disea...
Lobato, L.; Beirao, I.; Silva, M.; Bravo, F.; Silvestre, F.; Guimaraes, S.; Sousa, A.; Noel, LH.; Sequeiros, J.Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Lobato L, Beirão I, Silva M, Bravo F, Silvestre F, Guimarães S, Sousa A, Noël LH, Sequeiros J. SourceDepartment of Nephrology and Centro de Estudos de Paramiloidose, Hospital Geral de Santo António and Institute for Molecular and Cell Biology, Porto, Portugal. llobato@netcabo.pt Abstract BACKGROUND: Portu...
Familial amyloid polyneuropathy type I (Portuguese): distribution and character...
Lobato, L.; Beirao, I.; Guimaraes, S.; Droz, D.; Guimaraes, S.; Grunfeld, J.; Noel, L.