Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Autor: Bourbon, Mafalda, Rato, Quitéria, Alves, Ana Catarina, Medeiros, Ana Margarida, Gomes, Ana Catarina, Ferreira, Ana Cristina, Gaspar, Ana, Marques, Ana Margarida, Garabal, Ana Maria, Bogalho, Ana Paula, Pereira, Ana Rita, Raimundo, Anabela, Travessa, André, Lopes, Andreia, Afonso, António, Furtado, António, Guerra, António, Monteiro, António, Trindade, António, Ribeiro, Armindo, Pereira, Bernardo Dias, Marques, Bernardo, Laranjeira, Carla, Moniz, Catarina Senra, Frutuoso, Cecília, Reis, Cláudia Falcão, Rodrigues, Cláudia, Fernandes, Clementina, Ferreira, Conceição, Ferreira, Daniel, Torres, Diogo, Martins, Elisabete, Gaspar, Elsa, Pimentel, Fabiana, Simões, Fernando, Araújo, Francisco, Silva, Francisco, Lobarinhas, Goreti, Morais, Graça, Gama, Guida, Lourenço, Guilherme, Mansilha, Helena, Pereira, Helena, Santos, Heloísa, Antunes, Henedina, Gomes, Inês Batista, Colaço, Inês, Azevedo, Isabel, Palma, Isabel, Anselmo, João, Porto, João, Ramos, João, Duarte, João Sequeira, Alves, Jorge Pintado, Salgado, José Miguel, de Moura, José Pereira, Sassetti, Leonor, Ramos, Lina Cardoso, Matos, Luísa Diogo, Vieira, Luísa Mota, Pires, Luísa, de Moura, Márcio, Bruges, Margarida, Venâncio, Margarida, Barroso, Maria do Rosário, Virtuoso, Maria João, Gonçalves, Maria Luísa, Oliveira, Mário Martins, Nunes, Mendes, Costa, Miguel, Mendes, Miguel, Rico, Miguel Toscano, Tavares, Mónica, Miguel, Natalina, Moldovan, Oana, Azevedo, Olga, Pinto, Patrícia Lipari, Pais, Patrícia, Vasconcelos, Patrícia, Garcia, Paula, Martins, Paula, da Silva, Pedro Marques, Lemos, Piedade, Coelho, Raquel, da Silva, Raquel Gouveia, Ribeiro, Raquel, de Oliveira, Rita Jotta, Pinto, Roberto, Pereira, Sandra, Cristina, Sérgio Ferreira, Sequeira, Sílvia, Correia, Susana, Vassalo, Tânia, Pack, Tiago, Martins, Vânia, Vieira, Vera Frazão, Miranda, Beatriz, Chora, Joana Rita

Publikováno v: In Journal of Lipid Research February 2024 65(2)

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Spectrum of gene variants in children and adults with heterozygous familial hypercholesterolaemia (FH) across world regions: A study by the EAS-FH Studies Collaboration (FHSC)

Autor: Elshorbagy, Amany, Stevens, Christophe, Vallejo-Vaz, Antonio, Dharmayat, Kanika, Lyons, Alexander, Bourbon, Mafalda, Chora, Joana, Humphries, Steve, Catapano, Alberico, Hovingh, G., Mata, Pedro, Santos, Raul, Soran, Handrean, Watts, Gerald, Raal, Frederick J., Freiberger, Tomas, Ray, Kausik

Publikováno v: In Atherosclerosis August 2024 395 Supplement 1

E_Lipid –Characterisation of the lipid profile of the Portuguese population

Autor: Chora, Joana, Alves, Ana Catarina, Mariano, Cibelle, Rato, Quitéria, Antunes, Marília, Bourbon, Mafalda

Publikováno v: In Atherosclerosis August 2024 395 Supplement 1

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Autor: Chora, Joana Rita, Alves, Ana Catarina, Medeiros, Ana Margarida, Mariano, Cibelle, Lobarinhas, Goreti, Guerra, António, Mansilha, Helena, Cortez-Pinto, Helena, Bourbon, Mafalda

Publikováno v: In Journal of Clinical Lipidology March-April 2017 11(2):477-484