Ana Catarina Alves

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 285 citations · Full text

Family Medicine, Metabolic Syndrome, Lipid Disorder +10

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

Joana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves et al. · Genetics in Medicine · 2017 · 138 citations · Full text

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity

Poulabi Banerjee, Kuo‐Chen Chan, Michel Tarabocchia et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2019 · 90 citations · Full text

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

Ana Catarina Alves, Aitor Etxebarria, Anne K. Soutar et al. · Human Molecular Genetics · 2013 · 88 citations · Full text

Familial hypercholesterolaemia in Portugal

Mafalda Bourbon, Ana Catarina Alves, Ana Margarida Medeiros et al. · Atherosclerosis · 2007 · 86 citations · Full text

Family Medicine, Metabolic Syndrome, Lipid Disorder +8