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

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The Lancet, S0140-6736(21), 2021, pp. 01122-3

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

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Atherosclerosis, vol. 277, 2018 Oct 1, pp. 234-255

Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica

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Arteriosclerosis, thrombosis, and vascular biology, vol. 40(10), 2020, pp. 2508-2515

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

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Journal of clinical lipidology, vol. 11(1), 2017, pp. 160-166

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

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Genetics in Medicine, vol. 24(2), 2022, pp. 293-306

ClinVar database of global familial hypercholesterolemia‐associated DNA variants

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Human mutation, vol. 39, 2018, pp. 1631–1640

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

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Atherosclerosis, vol. 319, 2021 Feb 1, pp. 108-117

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

U. Ramaswami, M. Futema, M. P. Bogsrud, K. Holven, J. E. Roeters van Lennep, A. Wiegman, O. Descamps, M. Vrablik, T. Freiberger, H. Dieplinger, S. Greber-Platzer, Gabriele Hanauer-Mader, M. Bourbon, E. Drogari, S. Humphries

Atherosclerosis, vol. 292, 2020 Jan 1, pp. 178-187