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

Autor: Kirsten B. Holven, Mafalda Bourbon, Tomáš Freiberger, Olivier S. Descamps, Susanne Greber-Platzer, Albert Wiegman, Jeanine E. Roeters van Lennep, Michal Vrablík, Gabriele Hanauer-Mader, Marta Futema, Euridiki Drogari, Uma Ramaswami, Hans Dieplinger, Martin Prøven Bogsrud, Steve E. Humphries

Publikováno v: Atherosclerosis, 292, 178-187. Elsevier Ireland Ltd
Atherosclerosis

Background and aims For children with heterozygous familial hypercholesterolaemia (HeFH), European guidelines recommend consideration of statin therapy by age 8–10 years for those with a low density lipoprotein cholesterol (LDL-C) >3.5 mmol/l, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61124bbc44f5e8d6ec46d690f10c2cb7
https://doi.org/10.1016/j.atherosclerosis.2019.11.012

Statins for children with familial hypercholesterolemia

Autor: Alpo Vuorio, Serena Tonstad, Jaana Kuoppala, Euridiki Drogari, Steve E. Humphries, Petri T. Kovanen, Uma Ramaswami, Albert Wiegman

Publikováno v: Cochrane Database Syst Rev

Background Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosoma dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0d783b34d5e905c9d9af79603dffaa8
https://doi.org/10.1002/14651858.cd006401.pub5

Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries

Autor: Mary Aderayo Bamimore, Jeanine E. Roeters van Lennep, Giuliana Fortunato, Vasiliki Mollaki, Eran Leitersdorf, Antonietta D'Angelo, Sonia Shah, Euridiki Drogari, Philippa J. Talmud, Steve E. Humphries, Albert Wiegman, Mahtab Sharifi, Małgorzata Waluś-Miarka, Maria Nicoletta D'Agostino, KaWah Li, Paolo Rubba, Monique T. Mulder, Ros Whittall, Jackie A. Cooper, Ronen Durst, Marta Futema, Olivia Goldberg, Robert A. Hegele, Eric J.G. Sijbrands, Joep C. Defesche, John C. Whittaker

Publikováno v: Clinical Chemistry, 61(1), 231-238. American Association for Clinical Chemistry Inc.
Clinical chemistry, 61(1), 231-238. American Association for Clinical Chemistry Inc.

BACKGROUND Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused by mutations in 1 of 3 genes. In the 60% of patients who are mutation negative, we have recently shown that the clinical phenotype can be associated with an accumu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b4d47d19b710c509d83e586b9ccd15
https://doi.org/10.1373/clinchem.2014.231365

The effect of LP(a) on cardiovascular structure in children aged 6-16 years old. Findings in the familial hypercholesterolemia population

Autor: Kimon Stamatelopoulos, E. Griva, Katerina Kyrkou, Euridiki Drogari

Publikováno v: Atherosclerosis. 275:e161-e162

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c48ed9f3813acf0ffd2d77c53ff852c9
https://doi.org/10.1016/j.atherosclerosis.2018.06.485

Molecular analysis of 15 homozygous LAL-D patients from greece using DBS screening

Autor: Ekaterina Zakharova, Euridiki Drogari, Vasiliki Mollaki, Elena Kamenet, John A. Hamilton

Publikováno v: Atherosclerosis. 263:e100-e101

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4960b585e94b9bff681c0326c28b5602
https://doi.org/10.1016/j.atherosclerosis.2017.06.328