Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
1
TITLE: Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 65, ISSUE: 2
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 65, ISSUE: 2
2
TITLE: Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
AUTHORS: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLISHED: 2024, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 9, ISSUE: 1
AUTHORS: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLISHED: 2024, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 9, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS3
TITLE: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
AUTHORS: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; ...More
PUBLISHED: 2024, SOURCE: The Lancet, VOLUME: 403, ISSUE: 10421
AUTHORS: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; ...More
PUBLISHED: 2024, SOURCE: The Lancet, VOLUME: 403, ISSUE: 10421
4
TITLE: EXCESS OF VARIANTS IDENTIFIED IN LIPID GENES AS AN ALTERNATIVE CAUSE OF HIGH LDLC IN INDIVIDUALS WITH FH-PHENOTYPE Full Text
AUTHORS: Medeiros, Ana; Alves, Ana Catarina; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
AUTHORS: Medeiros, Ana; Alves, Ana Catarina; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
INDEXED IN: WOS
WOS5
TITLE: 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) Full Text
AUTHORS: 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;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
AUTHORS: 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;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
INDEXED IN: WOS
WOS6
TITLE: TO CORRECT OR NOT TO CORRECT (FOR TREATMENT): ESTIMATING PRETREATMENT LDL-C CONCENTRATIONS IN GENETICALLY CHARACTERIZED PATIENTS WITH FAMILIAL HYPERCHOLESTEROLAEMIA ON LIPID-LOWERING MEDICATION Full Text
AUTHORS: Stevens, Christophe; Elshorbagy, Amany; 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;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
AUTHORS: Stevens, Christophe; Elshorbagy, Amany; 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;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
INDEXED IN: WOS
WOS7
TITLE: Portuguese Lipid Study (e_LIPID)
AUTHORS: Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quiteria; Antunes, Marilia; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 13, ISSUE: 22
AUTHORS: Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quiteria; Antunes, Marilia; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 13, ISSUE: 22
8
TITLE: Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
AUTHORS: Javier de las Heras; Carolina Almohalla; Javier Blasco-Alonso; Mafalda Bourbon; Maria-Luz Couce; María José de Castro López; Mª Concepción García Jiménez; David Gil Ortega; Luisa González-Diéguez; Silvia Meavilla; Ana Moreno-Álvarez; José Pastor-Rosado; Paula Sánchez-Pintos; Irene Serrano-Gonzalo; Eduardo López; Pedro Valdivielso; Raquel Yahyaoui; Jesús Quintero;
PUBLISHED: 2024, SOURCE: Nutrients, VOLUME: 16, ISSUE: 24
AUTHORS: Javier de las Heras; Carolina Almohalla; Javier Blasco-Alonso; Mafalda Bourbon; Maria-Luz Couce; María José de Castro López; Mª Concepción García Jiménez; David Gil Ortega; Luisa González-Diéguez; Silvia Meavilla; Ana Moreno-Álvarez; José Pastor-Rosado; Paula Sánchez-Pintos; Irene Serrano-Gonzalo; Eduardo López; Pedro Valdivielso; Raquel Yahyaoui; Jesús Quintero;
PUBLISHED: 2024, SOURCE: Nutrients, VOLUME: 16, ISSUE: 24
9
TITLE: Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
AUTHORS: Medeiros, A. M.; Bourbon, M.;
PUBLISHED: 2023, SOURCE: CURRENT ATHEROSCLEROSIS REPORTS, VOLUME: 25, ISSUE: 4
AUTHORS: Medeiros, A. M.; Bourbon, M.;
PUBLISHED: 2023, SOURCE: CURRENT ATHEROSCLEROSIS REPORTS, VOLUME: 25, ISSUE: 4
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TITLE: Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
AUTHORS: 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.; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, ISSUE: 9
AUTHORS: 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.; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, ISSUE: 9
