Browsing by Author Bourbon, M.

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Issue DateTitleAuthor(s)TypeAccess Type
Oct-2011Caracterização bioquímica e molecular de doentes com hipercolesterolemias genéticasAlves, A.C.; Medeiros, A.M.; Gomes, A.; Bourbon, M.conferenceObjectopenAccess
11-Oct-2013Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers for the correct assessment of monogenic dyslipidemiaMedeiros, A.M.; Alves, A.C.; Aguiar, P.; Bourbon, M.; Estudo Português de Hipercolesterolemia FamiliarlecturerestrictedAccess
Mar-2014Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemiaMedeiros, A.M.; Alves, A.C.; Aguiar, P; Bourbon, M.; on behalf of the Pediatric Investigators of the Portuguese Familial Hypercholesterolemia StudyarticleembargoedAccess
Apr-2012Cardiovascular risk assessment of pediatric dyslipidemic patientsMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
May-2012Cardiovascular risk assessment of pediatric dyslipidemic patientsMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
May-2014Cardiovascular risk factors in a young adult populationCanilho, J.; Alves, A.C.; Rato, Q.; Bourbon, M.conferenceObjectembargoedAccess
Jul-2011Cardiovascular Risk of Children With Clinical Diagnosis of Familial HypercholesterolemiaAlves, A.C.; Medeiros, A.M.; Bourbon, M.conferenceObjectembargoedAccess
Sep-2014Cardiovascular risk profile of high school students: A cross-sectional studyRocha, T.; Rocha, E.; Alves, A.C.; Medeiros, A.M.; Francisco, V.; Silva, S.; Mendes Gaspar, I.; Rato, Q.; Bourbon, M.articleopenAccess
Nov-2012Cascade Screening in Familial Hypercholesterolemia importance in early detectionLeitão, F.; Medeiros, A.M.; Berguete, S.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
15-Sep-2015Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and its Specific Treatment with Alirocumab, a PCSK9 Monoclonal AntibodyHopkins, P.N.; Defesche, J.; Fouchier, S.W.; Bruckert, E.; Luc, G.; Cariou, B.; Sjouke, B.; Leren, T.P.; Harada-Shiba, M.; Mabuchi, H.; Rabès, J.P.; Carrié, A.; van Heyningen, C.; Carreau, V.; Farnier, M.; Teoh, Y.P.; Bourbon, M.; Kawashiri, M.A.; Nohara, A.; Soran, H.; Marais, A.D.; Tada, H.; Abifadel, M.; Boileau, C.; Chanu, B.; Katsuda, S.; Kishimoto, I.; Lambert, G.; Makino, H.; Miyamoto, Y.; Pichelin, M.; Yagi, K.; Yamagishi, M.; Zair, Y.; Mellis, S.; Yancopoulos, G.D.; Stahl, N.; Mendoza, J.; Du, Y.; Hamon, S.; Krempf, M.; Swergold, G.D.articleembargoedAccess
Apr-2011Co-relação entre perfil lipídico/risco cardiovascular e tipo de mutação em doentes com Hipercolesterolemia FamiliarAlves, A.C.; Medeiros, A.M.; Bourbon, M.conferenceObjectopenAccess
Jun-2011Complete sequencing by Pyrosequencing of APOB gene of patients with clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
May-2011Correlation between lipid profile / cardiovascular risk and type of mutation in Portuguese patients with familial hypercholesterolemiaAlves, A.C.; Medeiros, A.M.; Bourbon, M.conferenceObjectopenAccess
Jun-2011Determination of sdLDL particles in patients with Familial Hyercholesterolaemia and Familial Combined HyperlipidaemiaGomes, A.; Santos, T.; Bourbon, M.conferenceObjectopenAccess
Jun-2015Development of a Novel Targeted Panel Sequencing Assay to Identify Patients with Familial HypercholesterolemiaMedeiros, A.M.; Silva, C.; Vieira, Luís; Bourbon, M.conferenceObjectembargoedAccess
10-Dec-2014Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the young) em PortugalGaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.; Almeida, B.; Bourbon, M.conferenceObjectembargoedAccess
Nov-2014Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the young) em PortugalGaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.; Almeida, B.; Bourbon, M.conferenceObjectembargoedAccess
May-2014Differences in secondary structure of p.Arg1164Thr and p.Gln4494del, two novel ApoB-100 mutantsEtxebarria, A.; Fernández-Higuero, J.A.; Benito-Vicente, A.; Alves, A.C.; Bourbon, M.; Ostolaza, H.; Martin, C.conferenceObjectembargoedAccess
Oct-2012Dislipidemia hereditária VS dislipidemia ambiental em crianças portuguesasMedeiros, A.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Nov-2014Dunnigan-type familial partial lipodystrophy in a large Portuguese kindredMoldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, M.conferenceObjectembargoedAccess