Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score

Autor: Philippe Moulin, Robert Dufour, Maurizio Averna, Marcello Arca, Angelo B. Cefalù, Davide Noto, Laura D’Erasmo, Alessia Di Costanzo, Christophe Marçais, Luis Antonio Alvarez-Sala Walther, Maciej Banach, Jan Borén, Robert Cramb, Ioanna Gouni-Berthold, Elizabeth Hughes, Colin Johnson, Xavier Pintó, Željko Reiner, Jeanine Roeters van Lennep, Handrean Soran, Claudia Stefanutti, Erik Stroes, Eric Bruckert

Publikováno v: Data in Brief, Vol 21, Iss , Pp 1334-1336 (2018)

Data presented in this article are supplementary material to our article entitled “Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS Score” (Moulin et al

Externí odkaz: https://doaj.org/article/e3151c823e6a4206b9afc2f7a8d0b1f8

Lp(a): a genetic cause of clinical FH in children

Autor: Maurizio R Averna, Angelo B Cefalù

Publikováno v: European Heart Journal. 44:1429-1431

No abstract available

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caca74395b8e9c8c17bcced661fcc09a
https://doi.org/10.1093/eurheartj/ehac789

Circulating Molecular Chaperones in Subjects with Amnestic Mild Cognitive Impairment and Alzheimer’s Disease: Data from the Zabùt Aging Project

Autor: Giulia Accardi, Everly Conway de Macario, Alberto J.L. Macario, Antonella Marino Gammazza, Roberta Baschi, Angelo B. Cefalù, Vincenzo Restivo, Roberto Monastero, Francesco Cappello, Celeste Caruso Bavisotto

Publikováno v: Journal of Alzheimer's Disease. 87:161-172

Molecular chaperones play essential roles in many processes such as cell differentiation, tissue homeostasis, and organ remodeling. Recent data indicate that chaperones can act as cytoprotectants for brain cells during the progression of neurodegener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a777e61a6fac95f9fc36a589649f9a
https://doi.org/10.3233/jad-180825

APOC-III: a Gatekeeper in Controlling Triglyceride Metabolism

Autor: Antonina Giammanco, Rossella Spina, Angelo B. Cefalù, Maurizio Averna

Purpose of Review Apolipoprotein C-III (ApoC-III) is a widely known player in triglyceride metabolism, and it has been recently recognized as a polyhedric factor which may regulate several pathways beyond lipid metabolism by influencing cardiovascula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffece0bbd9a7f516ff16acccf84f1a14
https://hdl.handle.net/10447/580173

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