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Early modification of sickle cell disease clinical course by UDP-glucuronosyltr...
Martins, R; Morais, A; Dias, A; Soares, I; Rolão, C; Ducla-Soares, J; Braga, L; Seixas, T; Nunes, B; Olim, G; Romão, L; Lavinha, J; Faustino, PElevated erythrocyte destruction in sickle cell disease (SCD) results in chronic hyperbilirubinaemia and, in a subset of patients, cholelithiasis occurs. We investigated whether the (TA)n promoter polymorphism in the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) may modify bilirubin metabolism, influencing bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in a group of 153 young S...
Hereditary anaemias in Portugal: epidemiology, public health significance, and ...
Martins, M.C.; Olim, G.; Melo, J.; Magalhães, H.A.; Rodrigues, M.O.A countrywide prospective study aimed at establishing the prevalence of the haemoglobinopathy genes in the Portuguese population was carried out by screening 15,208 randomly selected blood samples from young males. This male based survey provided the opportunity of assessing simultaneously the prevalence of the red cell enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency, thus giving a picture of these i...
Red cell abnormalities in a kindred with an uncommon form of hereditary spheroc...
Olim, G; Marques, S; Saldanha, C; Santos, D; Barroca, P; Martins e Silva, J
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