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Que factores influenciam a decisão de limitar os níveis de intervenção terapêut...
Pinto, L.; Beirão, I.; Cardoso, T.
Microrganismos multi-resistentes: qual o seu papel nas infeções graves?
Pinto, L.; Beirão, I.; Cardoso, T.
Familial pseudoxanthoma elasticum with nephrocalcinosis: a case report
Lacerda, P.; Beirão, I.; Pestana, P.; Beirão, J.M.; Freitas, C.; Rocha, M.J.; Cabrita, A.; Costa, P.P.Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a preva...
TTRV30M oligomeric aggregates inhibit proliferation of renal progenitor cells b...
Moreira, L.; Ballerini, L.; Peired, A.; Sagrinati, C.; Parente, E.; Angelotti, M.L.; Ronconi, E.; Lazzeri, E.; Mazzinghi, B.; Lacerda, P.; Beirão, I.Publicado em: The Proceedings of the XIIIth International Symposium on Amyloidosis, May 6-10, 2012, Groningen, The Netherlands ; In Familial Amyloidotic Polyneuropathy, the amyloid deposition of mutant transthyretin TTR V30M can lead to renal complications. An unexplored mechanism is the toxicity of oligomeric TTR aggregates. A subset of renal progenitor cells (RPC) in the adult human kidney can induce regener...
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic ep...
Balreira, A.; Gaspar, P.; Caiola, D.; Chaves, J.; Beirão, I.; Lima, J.; Azevedo, J.; Miranda, M.Abstract The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic syndrome with a strong accumulation of C1q in capillary loops and mesangium of kidney. The biochemical analysis of one of the patients revealed a normal beta-glucocerebrosidase activity in leukocytes, but a severe enzymatic deficiency in cultured ...
End-Stage Renal Disease in Familial Amyloidosis ATTR Val30Met: A
Lobato, L.; Ventura, A.; Beirão, I.; Miranda, H.P.; Seca, R.; Henriques, A.C.; Teixeira, M.; Sarmento, A.M.; Pereira, M.C.Transplant Proc. 2003 May;35(3):1116-20. End-stage renal disease in familial amyloidosis ATTR Val30Met: a definitive indication to combined liver-kidney transplantation. Lobato L, Ventura A, Beirão I, Miranda HP, Seca R, Henriques AC, Teixeira M, Sarmento AM, Pereira MC. Department of Nephrology, and Liver Transplantation Program, Hospital Geral de Santo António, Largo Professor Abel Salazar, 4050, Porto, Por...
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: Port...
Familial amyloid polyneuropathy type I (Portuguese): distribution and character...
LOBATO, L.; BEIRAO, I.; GUIMARAES, S.; DROZ, D.; GUIMARAES, S.; GRUNFELD, J.P.; NOEL, LH.
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