Mafalda Bourbon
Lisbon, Portugal
Last Updated: 09/26/2026
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Found 82 publications
The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.
Journal: Current atherosclerosis reports
Published: April 08, 2026
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.
Journal: Science (New York, N.Y.)
Published: October 30, 2025
Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.
Journal: European journal of preventive cardiology
Published: October 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.
Journal: Science (New York, N.Y.)
Published: October 30, 2025
Recent advances in research and care of familial hypercholesterolaemia.
Journal: The lancet. Diabetes & endocrinology
Published: July 17, 2025
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Journal: Journal of clinical lipidology
Published: April 24, 2025
Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS).
Journal: European journal of preventive cardiology
Published: April 22, 2025
Functional characterization of 16 variants found in the LDL receptor gene.
Journal: Journal of lipid research
Published: February 02, 2025
Application of a Pilot Screening Program for Familial Hypercholesterolemia in a High-Complexity Hospital Center
Journal: Revista medica de Chile
Published: March 07, 2024
Last Updated: 09/26/2026