Mafalda Bourbon

11PUBLICATIONS
109CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthMedical biochemistry - lipidsPacific Peoples theory of change models for health
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Publications (11)

|May 25, 2026
Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.

|May 14, 2026
Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.

|Oct 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

Daniel R Tabet, Atina G Coté, Megan C Lancaster

|Jun 27, 2025
Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS).

Jan Kafol, Beatriz Miranda, Rok Sikonja

|Jan 08, 2025
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Javier de Las Heras, Carolina Almohalla, Javier Blasco-Alonso

|Nov 27, 2024
Portuguese Lipid Study (e_LIPID).

Joana Rita Chora, Ana Catarina Alves, Cibelle Mariano

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Frequent Collaborators

5 joint publications

Joana Rita Chora

3 joint publications

Tomas Freiberger

3 joint publications

Urh Groselj

3 joint publications

Ana Catarina Alves