Browsing by Author Alves, Ana Catarina

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Showing results 1 to 12 of 12
Issue DateTitleAuthor(s)TypeAccess Type
Apr-2014Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers for the correct assessment of monogenic dyslipidemiaMedeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, MafaldaconferenceObjectopenAccess
Nov-2015Characterization of the First PCSK9 Gain of Function HomozygoteAlves, Ana Catarina; Etxebarria, A.; Medeiros, A.M.; Benito-Vicente, A.; Thedrez, A.; Passard, M.; Croyal, M.; Martin, C.; Lambert, G.; Bourbon, MafaldaarticleembargoedAccess
May-2014Determination of the atherogenic profile improves patient stratificatioManaças, Ana Rita; Jamal, Salima; Alves, Ana Catarina; Rato, Quitéria; Bourbon, MafaldaconferenceObjectembargoedAccess
17-Dec-2013Dislipidemia e risco cardiovascular em crianças: identificação de biomarcadores para uma melhor diferenciação entre uma dislipidemia monogénica e uma dislipidemia poligénica/externaMedeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, MafaldaarticleopenAccess
Feb-2014Estudo português de hipercolesterolemia familiar: 15 anosAlves, Ana Catarina; Medeiros, Ana Margarida; Mafalda, Bourbon; Estudo Português de Hipercolesterolemia FamiliararticleopenAccess
Apr-2012Functional studies of LDLR mutationsAlves, Ana Catarina; Silva, Sónia; Patel, Dilip; Rui, Malhó; Soutar, Anne Katherine; Bourbon, MafaldaconferenceObjectopenAccess
May-2014Genotype/phenotype differences in childhood and adulthoodAlves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess
May-2014In silico classification of LDLR variants leads to misdiagnosis of FH patients – validation of a novel criteriaAlves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess
28-May-2015Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvementMedeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaarticleembargoedAccess
May-2014Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemiaAlves, Ana Catarina; Etxebarria, Aitor; Soutar, Anne Katherine; Martin, Cesar; Bourbon, MafaldaconferenceObjectembargoedAccess
13-Nov-2013Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemiaAlves, Ana Catarina; Etxebarria, Aitor; Soutar, Anne Katherine; Martin, Cesar; Bourbon, MafaldaarticleembargoedAccess
May-2014sdLDL-LDL ratio in familial combined hyperlipidaemia patients and familial hypercholesterolemia patientsJamal, Salima; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess