Brown Algae Potential as a Functional Food against Hypercholesterolemia: Review

por André, Rebeca, Pacheco, Rita, Bourbon, Mafalda, Serralheiro, Maria Luísa
Publicado 2021

High-Throughput Microscopy Characterization of Rare LDLR Variants

por Graça, Rafael, Zimon, Magdalena, Alves, Ana C., Pepperkok, Rainer, Bourbon, Mafalda
Publicado 2023

Hypercysteinemia, A Potential Risk Factor for Central Obesity and Related Disorders in Azores, Portugal

por Lima, Ana, Ferin, Rita, Bourbon, Mafalda, Baptista, José, Pavão, M. Leonor
Publicado 2019

Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects

por Albuquerque, João, Medeiros, Ana Margarida, Alves, Ana Catarina, Bourbon, Mafalda, Antunes, Marília
Publicado 2022

Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult...

por Albuquerque, João, Medeiros, Ana Margarida, Alves, Ana Catarina, Bourbon, Mafalda, Antunes, Marília
Publicado 2022

Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia

por Correia, Marta, Kagenaar, Eva, van Schalkwijk, Daniël Bernardus, Bourbon, Mafalda, Gama-Carvalho, Margarida
Publicado 2021

Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes

por Graça, Rafael, Fernandes, Rafael, Alves, Ana Catarina, Menezes, Juliane, Romão, Luísa, Bourbon, Mafalda
Publicado 2021

Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

por Etxebarria, Aitor, Benito-Vicente, Asier, Alves, Ana C., Ostolaza, Helena, Bourbon, Mafalda, Martin, Cesar
Publicado 2014

The Hypocholesterolemic Potential of the Edible Algae Fucus vesiculosus: Proteomic and Quantitative PCR Analysis

por André, Rebeca, Pacheco, Rita, Alves, Ana Catarina, Santos, Hugo M., Bourbon, Mafalda, Serralheiro, Maria Luísa
Publicado 2023

Metabolic Dysfunction and Asthma: Current Perspectives

por Pite, Helena, Aguiar, Laura, Morello, Judit, Monteiro, Emília C, Alves, Ana Catarina, Bourbon, Mafalda, Morais-Almeida, Mário
Publicado 2020

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)

por Cymbron, Teresa, Mendes, Patrícia, Ramos, Amanda, Raposo, Mafalda, Kazachkova, Nadiya, Medeiros, Ana Margarida, Bruges-Armas, Jácome, Bourbon, Mafalda, Lima, Manuela
Publicado 2014

No Evidence for Lower Levels of Serum Vitamin D in the Presence of Hepatic Steatosis. A Study on the Portuguese General Population

por Leitão, Jorge, Carvalhana, Sofia, Silva, Ana Paula, Velasco, Francisco, Medeiros, Isabel, Alves, Ana Catarina, Bourbon, Mafalda, Oliveiros, Bárbara, Carvalho, Armando, Cortez-Pinto, Helena
Publicado 2018

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal

por Alves, Ana Catarina, Miranda, Beatriz, Moldovan, Oana, Santo, Raquel Espírito, Gouveia Silva, Raquel, Soares Cardoso, Sandra, Diogo, Luísa, Seidi, Mónica, Sequeira, Silvia, Bourbon, Mafalda
Publicado 2023

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examin...

por Gaio, Vânia, Nunes, Baltazar, Fernandes, Aida, Mendonça, Francisco, Horta Correia, Filomena, Beleza, Álvaro, Gil, Ana Paula, Bourbon, Mafalda, Vicente, Astrid, Dias, Carlos Matias, Barreto da Silva, Marta
Publicado 2014

Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing

por Latkovskis, Gustavs, Rescenko-Krums, Raimonds, Nesterovics, Georgijs, Briviba, Monta, Saripo, Vita, Gilis, Dainus, Terauda, Elizabete, Meiere, Ruta, Skudrina, Gunda, Erglis, Andrejs, Chora, Joana Rita, Bourbon, Mafalda, Klovins, Janis
Publicado 2023

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patien...

por Banerjee, Poulabi, Chan, Kuo-Chen, Tarabocchia, Michel, Benito-Vicente, Asier, Alves, Ana C., Uribe, Kepa B., Bourbon, Mafalda, Skiba, Paul J., Pordy, Robert, Gipe, Daniel A., Gaudet, Daniel, Martin, Cesar
Publicado 2019

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

por Ramaswami, Uma, Futema, Marta, Bogsrud, Martin P., Holven, Kirsten B., Roeters van Lennep, Jeanine, Wiegman, Albert, Descamps, Olivier S., Vrablik, Michal, Freiberger, Tomas, Dieplinger, Hans, Greber-Platzer, Susanne, Hanauer-Mader, Gabriele, Bourbon, Mafalda, Drogari, Euridiki, Humphries, Steve E.
Publicado 2020

The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration

por Bedlington, Nicole, Abifadel, Marianne, Beger, Birgit, Bourbon, Mafalda, Bueno, Héctor, Ceska, Richard, Cillíková, Kristýna, Cimická, Zdenka, Daccord, Magdalena, de Beaufort, Carine, Dharmayat, Kanika I., Ference, Brian A., Freiberger, Tomáš, Geanta, Marius, Gidding, Samuel S., Grošelj, Urh, Halle, Martin, Johnson, Neil, Novakovic, Tanja, Májek, Ondrej, Pallidis, Athanasios, Peretti, Noel, Pinto, Fausto J., Ray, Kausik Kosh, Rees, Bleddyn, Reeve, John, Reiner, Željko, Santos, Raul D., Schunkert, Heribert, Šikonja, Jaka, Sokolovic, Milka, Tokgözoglu, Lale, Vrablík, Michal, Wiegman, Albert, Gutiérrez-Ibarluzea, Iñaki
Publicado 2022

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

por Cuchel, Marina, Lee, Paul C., Hudgins, Lisa C., Duell, P. Barton, Ahmad, Zahid, Baum, Seth J., Linton, MacRae F., de Ferranti, Sarah D., Ballantyne, Christie M., Larry, John A., Hemphill, Linda C., Kindt, Iris, Gidding, Samuel S., Martin, Seth S., Moriarty, Patrick M., Thompson, Paul P., Underberg, James A., Guyton, John R., Andersen, Rolf L., Whellan, David J., Benuck, Irwin, Kane, John P., Myers, Kelly, Howard, William, Staszak, David, Jamison, Allison, Card, Mary C., Bourbon, Mafalda, Chora, Joana R., Rader, Daniel J., Knowles, Joshua W., Wilemon, Katherine, McGowan, Mary P.
Publicado 2023

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

por Hopkins, Paul N., Defesche, Joep, Fouchier, Sigrid W., Bruckert, Eric, Luc, Gérald, Cariou, Bertrand, Sjouke, Barbara, Leren, Trond P., Harada-Shiba, Mariko, Mabuchi, Hiroshi, Rabès, Jean-Pierre, Carrié, Alain, van Heyningen, Charles, Carreau, Valérie, Farnier, Michel, Teoh, Yee P., Bourbon, Mafalda, Kawashiri, Masa-aki, Nohara, Atsushi, Soran, Handrean, Marais, A. David, Tada, Hayato, Abifadel, Marianne, Boileau, Catherine, Chanu, Bernard, Katsuda, Shoji, Kishimoto, Ichiro, Lambert, Gilles, Makino, Hisashi, Miyamoto, Yoshihiro, Pichelin, Matthieu, Yagi, Kunimasa, Yamagishi, Masakazu, Zair, Yassine, Mellis, Scott, Yancopoulos, George D., Stahl, Neil, Mendoza, Johanna, Du, Yunling, Hamon, Sara, Krempf, Michel, Swergold, Gary D.
Publicado 2015