%0 Journal Article %J Amyloid %D 2015 %T Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis %A Beirão, J.M. %A Malheiro, J. %A Lemos, C. %A Matos, E. %A Beirão, I. %A Pinho-Costa, P. %A Torres, P. %B Amyloid %V 22 %P 31 - 35 %8 2015 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84927139450&partnerID=40&md5=d726b487bbf2a9f8723e185c1fbb76ff %N 1 %0 Journal Article %J Seizure %D 2011 %T Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings %A Chaves, J. %A Beirão, I. %A Balreira, A. %A Gaspar, P. %A Caiola, D. %A Sá-Miranda, M.C. %A Lima, J.L. %B Seizure %V 20 %P 738 - 740 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-80053570634&partnerID=40&md5=11b483d5076d06ee4313b1009f72607c %N 9 %0 Journal Article %J Clinical Nephrology %D 2010 %T Erythropoietin production by distal nephron in normal and familial amyloidotic adult human kidneys %A Beirão, I. %A Moreira, L. %A Barandela, T. %A Lobato, L. %A Silva, P. %A Gouveia, C.M. %A Carneiro, F. %A Fonseca, I. %A Porto, G. %A Pinho E Costa, P. %B Clinical Nephrology %V 74 %P 327 - 335 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-78649902510&partnerID=40&md5=86c09545eefba5e5404e9a895abfc8f4 %N 5 %0 Journal Article %J Nephron - Clinical Practice %D 2008 %T Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition: A clinicopathologic study of twelve cases %A Beirão, I. %A Moreira, L. %A Porto, G. %A Lobato, L. %A Fonseca, I. %A Cabrita, A. %A Costa, P.M.P. %B Nephron - Clinical Practice %V 109 %P c95 - c99 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-48249126810&partnerID=40&md5=c023d22654f317e3b0f432024ef39274 %N 2 %0 Journal Article %J Blood Cells, Molecules, and Diseases %D 2008 %T Low serum levels of prohepcidin, but not hepcidin-25, are related to anemia in familial amyloidosis TTR V30M %A Beirão, I. %A Almeida, S. %A Swinkels, D. %A Costa, P.M.P. %A Moreira, L. %A Fonseca, I. %A Freitas, C. %A Cabrita, A. %A Porto, G. %B Blood Cells, Molecules, and Diseases %V 41 %P 175 - 178 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-48749088914&partnerID=40&md5=7edf1be6cec3cb645b307a1e85ecdaf8 %N 2 %0 Journal Article %J Human Molecular Genetics %D 2008 %T A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome %A Balreira, A. %A Gaspar, P. %A Caiola, D. %A Chaves, J. %A Beirão, I. %A Lima, J.L. %A Azevedo, J.E. %A Miranda, M.C.S. %B Human Molecular Genetics %V 17 %P 2238 - 2243 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-46249129691&partnerID=40&md5=e93af0c3d5f18d15e8eb3e708a416cd5 %N 14 %0 Journal Article %J Amyloid %D 2007 %T Liver transplantation and anemia in familial amyloidosis ATTR V30M %A Beirão, I. %A Lobato, L. %A Costa, P.M.P. %A Fonseca, I. %A Silva, M. %A Bravo, F. %A Cabrita, A. %A Porto, G. %B Amyloid %V 14 %P 33 - 37 %8 2007/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-33947645336&partnerID=40&md5=5ecb07296a778e3ea0187c2878b87b03 %N 1 %0 Journal Article %J Amyloid %D 2004 %T End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors %A Lobato, L. %A Beirão, I. %A Silva, M. %A Fonseca, I. %A Queirós, J. %A Rocha, G. %A Sarmento, A.M. %A Sousa, A. %A Sequeiros, J. %B Amyloid %V 11 %P 27 - 37 %8 2004/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-2542488594&partnerID=40&md5=2cd70eca5095e8f86d63201bce98c89f %N 1 %0 Journal Article %J Kidney international %D 2004 %T Kidney and anemia in familial amyloidosis type I. %A Beirão, I. %A Lobato, L. %A Costa, P.M. %A Fonseca, I. %A Mendes, P. %A Silva, M. %A Bravo, F. %A Cabrita, A. %A Porto, G. %B Kidney international %V 66 %P 2004 - 2009 %8 2004/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-21644479059&partnerID=40&md5=0eef71ca8c1ee1355d138d52519ddf48 %N 5