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Chronic Q fever with no elevation of inflammatory markers: a case report
Boattini, M.; Almeida, A.; Barata Moura, R.; Abreu, J.; Santos, A.S.; Rico, M.T.Chronic q Fever with no elevation of inflammatory markers: a case report. Boattini M, Almeida A, Moura RB, Abreu J, Santos AS, Toscano Rico M. SourceDepartment of Internal Medicine, St. Marta's Hospital, 1169-024 Lisbon, Portugal. Abstract We describe the case of a 55-year-old man with a biological prosthetic aortic valve who suffered from epigastrium and right hypochondrium pain associated with intermittent n...
Update of the biochemical and molecular results of Portuguese patients with Fam...
Santos, T.; Rato, Q.; Gaspar, I.M.; Rico, M.T.; Silva, J.M.; Bourbon, M.FCHL is a complex disorder with a highly atherogenic profile. The aim of this study is the biochemical/molecular characterization of FCHL patients. Molecular study of LPL, APOAIV, APOAV, APOCIII and USF1 (s1,s2) was performed in 35 index patients by PCR amplification and sequencing. Total cholesterol (TC), HDL-c, sdLDL, triglycerides (TG), apoB and apoCIII were measured in automated analysers. sdLDL was also an...
Caracterização bioquímica e molecular de doentes com diagnóstico clínico de Dis...
Santos, T.; Rato, Q.; Gaspar, I.M.; Guerra, A.; Rico, M.T.; Sequeira, S.; Silva, J.M.; Bourbon, M.A Dislipidemia Familiar Combinada (FCHL) é uma doença poligénica caracterizada por hiperlipidemia simples ou combinada, variabilidade intra-individual e intra-familiar do perfil lipídico, ApoB elevada (> 120 mg/dL) e risco elevado de doença cardiovascular (DCV). A sua causa é desconhecida mas alterações nos genes LPL, APOAIV, APOAV, APOCIII e USF1 parecem contribuir para o seu fenótipo. O objectivo deste estud...
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