Rationale and design of two trials assessing the efficacy, safety, and tolerability of inclisiran in adolescents with homozygous and heterozygous familial hypercholesterolaemia

Autor: M Doortje Reijman, Anja Schweizer, Amy L H Peterson, Eric Bruckert, Christian Stratz, Joep C Defesche, Robert A Hegele, Albert Wiegman

Publikováno v: European journal of preventive cardiology, 29(9), 1361-1368. SAGE Publications Ltd

Background Inclisiran is a small interfering RNA molecule that reduces low-density lipoprotein cholesterol (LDL-C) by inhibition of proprotein convertase subtilisin/kexin type 9. This subcutaneous, twice-yearly administered agent has been shown to ef

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146e988c8d4e6433d1e94a54589d00b6
http://www.scopus.com/inward/record.url?scp=85134755292&partnerID=8YFLogxK

Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations

Autor: Tycho R. Tromp, M. Doortje Reijman, Albert Wiegman, G. Kees Hovingh, Joep C. Defesche, Merel C. van Maarle, Inge B. Mathijssen

Publikováno v: Journal of clinical lipidology, 17(2), 291-296. Elsevier BV
Tromp, T R, Reijman, M D, Wiegman, A, Hovingh, G K, Defesche, J C, van Maarle, M C & Mathijssen, I B 2023, ' Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations ', Journal of clinical lipidology, vol. 17, no. 2, pp. 291-296 . https://doi.org/10.1016/j.jacl.2022.12.006

Homozygous familial hypercholesterolemia (HoFH) is a rare, potentially life-limiting, inherited disorder of lipoprotein metabolism characterized by extremely high low-density lipoprotein cholesterol levels. When both parents have heterozygous FH, the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9017af2d5a90cee9c2f7f2a6bc98f811
https://pubmed.ncbi.nlm.nih.gov/36604244

Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

Autor: Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J Blom, Frederick J Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Stefano A. Bertolini, Jing Pang, Gerald F. Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M. Stulnig, Christoph F. Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S. Descamps, Daisy Rymen, Peter Witters, Raul D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle Ruel, Mark H. Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S. Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed D. Alareedh, Mutaz Al-Khnifsawi, Ali F. Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad K. Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A. Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G. Zenti, Mika Hori, Mahmoud H. Ayesh, Sami T. Azar, Fadi F. Bitar, Akl C. Fahed, Elie M. Moubarak, Georges Nemer, Hapizah M. Nawawi, Ramón Madriz, Roopa Mehta, Arjen J. Cupido, Joep C. Defesche, M. Doortje Reijman, Jeanine E. Roeters-van Lennep, Erik S.G. Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M. Gaspar, Katarina S. Lalic, Marat V. Ezhov, Andrey V. Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B. Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G. Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I. Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z. Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R.M. Lyons, Christophe A.T. Stevens, Julie A. Brothers, Lisa C. Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T. Nguyen, Thanh-Huong Truong, Dirk J. Blom, Frederick J. Raal

Publikováno v: Homozygous Familial Hypercholesterolaemia International Clinical Collaborators 2022, ' Worldwide experience of homozygous familial hypercholesterolaemia : retrospective cohort study ', The Lancet, vol. 399, no. 10326, pp. 719-728 . https://doi.org/10.1016/S0140-6736(21)02001-8
The Lancet, 399(10326), 719-728. Elsevier Limited

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance abou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdc3b132039534b5b3b16d9271de125
https://research.vumc.nl/en/publications/f39e2a3e-cdca-435e-8d43-781bf5d3735d

Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia

Autor: Tycho R. Tromp, Shirin Ibrahim, Nick S. Nurmohamed, Jorge Peter, Linda Zuurbier, Joep C. Defesche, Laurens F. Reeskamp, G. Kees Hovingh, Erik S.G. Stroes

Publikováno v: Tromp, T R, Ibrahim, S, Nurmohamed, N S, Peter, J, Zuurbier, L, Defesche, J C, Reeskamp, L F, Hovingh, G K & Stroes, E S G 2022, ' Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia ', Atherosclerosis . https://doi.org/10.1016/j.atherosclerosis.2022.11.020
Atherosclerosis. Elsevier Ireland Ltd

Background and aims: Lipoprotein(a) (Lp(a)) is an LDL-like particle whose plasma levels are largely genetically determined. The impact of measuring Lp(a) in patients with clinical familial hypercholesterolemia (FH) referred for genetic testing is lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725c8e1d074316cf6f4e207504eb4b6e
https://doi.org/10.1016/j.atherosclerosis.2022.11.020

Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia

Autor: M. Mahdi Motazacker, Linda Zuurbier, Aldo Grefhorst, Natal A. W. van Riel, Joep C. Defesche, Laura van de Kerkhof, Lisette N. Klaaijsen, G. Kees Hovingh, Jorge Peter, Manon Balvers, Laurens F. Reeskamp

Publikováno v: Atherosclerosis, 321, 14-20. Elsevier Ireland Ltd

Background and aims: Familial hypercholesterolemia (FH) is caused by pathogenic variants in LDLR, APOB, or PCSK9 genes (designated FH+). However, a significant number of clinical FH patients do not carry these variants (designated FH-). Here, we inve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88115145c343d821d29efe08ce067bd
https://research.tue.nl/nl/publications/54c1273f-d10d-4db0-83b3-97e34195224b