Publications by authors named "M Bourbon"

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Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Ana Catarina Alves, Joana Rita Chora, Beatriz Miranda, Ana Margarida Medeiros, Rafael Graça, Mafalda Bourbon

J Clin Lipidol· December 2025

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Recent advances in research and care of familial hypercholesterolaemia.
Raul D Santos, Samuel S Gidding, Mafalda Bourbon, Iulia Iatan, Mariko Harada-Shiba

Lancet Diabetes Endocrinol· December 2025

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The functional landscape of coding variation in the familial hypercholesterolemia gene .
Daniel R Tabet, Atina G Coté, Megan C Lancaster, Jochen Weile, Ashyad Rayhan, Mafalda Bourbon

Science· October 2025

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Functional characterization of 16 variants found in the LDL receptor gene.
Kateřina Konečná, Tereza Přerovská, Tomáš Loja, Lenka Fajkusová, Jana Koutná, Mafalda Bourbon

J Lipid Res· September 2025

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Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).
Jan Kafol, Beatriz Miranda, Rok Sikonja, Jaka Sikonja, Albert Wiegman, Mafalda Bourbon

Eur J Prev Cardiol· June 2025

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