Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children

Authors: Groselj, Urh, Kafol, Jan, Molk, Neza, Sedej, Katarina, Mlinaric, Matej, Sikonja, Jaka, Sustar, Ursa, Kern, Barbara Cugalj, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa

Source: In Atherosclerosis January 2025 400

Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study

Authors: Elshorbagy, Amany ^*, Lyons, Alexander R.M., Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Dharmayat, Kanika I., Brandts, Julia, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid F., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Ashavaid, Tester F., Banach, Maciej, Binder, Christoph J., Bourbon, Mafalda, Brunham, Liam R., Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Davletov, Kairat, Descamps, Olivier S., Ezhov, Marat, Gaita, Dan, Groselj, Urh, Harada-Shiba, Mariko, Holven, Kirsten B., Kayikcioglu, Meral, Khovidhunkit, Weerapan, Lalic, Katarina, Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lima-Martinez, Marcos M., Lin, Jie, Maher, Vincent, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Nordestgaard, Børge G., Panayiotou, Andrie G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sadoh, Wilson E., Schunkert, Heribert, Shek, Aleksandr B., Stroes, Erik, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Tilney, Myra, Tomlinson, Brian, Truong, Thanh-Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez, Alejandra C., Viigimaa, Margus, Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Arca, Marcello, Averna, Maurizio, Schreier, Laura, Pang, Jing, Ebenbichler, Christoph, Dieplinger, Hans, Innerhofer, Reinhold, Winhofer-Stöckl, Yvonne, Greber-Platzer, Susanne, Krychtiuk, Konstantin, Speidl, Walter, Toplak, Hermann, Widhalm, Kurt, Stulnig, Thomas, Huber, Kurt, Höllerl, Florian, Rega-Kaun, Gersina, Kleemann, Lucas, Mäser, Martin, Scholl-Bürgi, Sabine, Säly, Christoph, Mayer, Florian J., Sperone, Alexandra, Tanghe, Chloé, Gérard, Anne-Catherine, Pojskic, Lamija, Sisic, Ibrahim, Durak Nalbantic, Azra, Ejubovic, Malik, Jannes, Cinthia E., Pereira, Alexandre C., Krieger, Jose E., Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Baass, Alexis, Bergeron, Jean, Bernard, Sophie, Brisson, Diane, Cermakova, Lubomira, Couture, Patrick, Francis, Gordon A., Gaudet, Daniel, Hegele, Robert A., Khoury, Etienne, Mancini, G.B. John, McCrindle, Brian W., Paquette, Martine, Ruel, Isabelle, Iatan, Iulia, Cuevas, Ada, Wang, Xumin, Meng, Kang, Song, Xiantao, Yong, Qiang, Jiang, Tao, Liu, Ziyou, Duan, Yanyu, Hong, Jing, Ye, Pucong, Chen, Yan, Qi, Jianguang, Liu, Zesen, Li, Yuntao, Zhang, Chaoyi, Peng, Jie, Yang, Ya, Yu, Wei, Wang, Qian, Yuan, Hui, Cheng, Shitong, Jiang, Long, Chong, Mei, Jiao, Jian, Wu, Yue, Wen, Wenhui, Xu, Liyuan, Zhang, Ruiying, Qu, Yichen, He, Jianxun, Fan, Xuesong, Wang, Zhenjia, Chow, Elaine, Pećin, Ivan, Perica, Dražen, Symeonides, Phivos, Vrablik, Michal, Ceska, Richard, Soska, Vladimir, Tichy, Lukas, Adamkova, Vera, Franekova, Jana, Cifkova, Renata, Kraml, Pavel, Vonaskova, Katerina, Cepova, Jana, Dusejovska, Magdalena, Pavlickova, Lenka, Blaha, Vladimir, Rosolova, Hana, Nussbaumerova, Barbora, Cibulka, Roman, Vaverkova, Helena, Cibickova, Lubica, Krejsova, Zdenka, Rehouskova, Katerina, Malina, Pavel, Budikova, Milena, Palanova, Vaclava, Solcova, Lucie, Lubasova, Alena, Podzimkova, Helena, Bujdak, Juraj, Vesely, Jiri, Jordanova, Marta, Salek, Tomas, Urbanek, Robin, Zemek, Stanislav, Lacko, Jan, Halamkova, Hana, Machacova, Sona, Mala, Sarka, Cubova, Eva, Valoskova, Katerina, Burda, Lukas, Benn, Marianne, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Dr Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed Abdoul, Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Christmann, Jutta, Dressel, Alexander, Fath, Felix, Ferraro, Chiara, Frenzke, Lydia, Gopon, Alica, Klein, Isabel, Pienkowska, Dominika, Sietmann, Tobias, Sonntag, Antonia, Adjan, Omar, Bahrmann, Philipp, Baessler, Andrea, Barkowski, Rasmus, Beckerdjian, Raffi, Berr, Christina, Birkenfeld, Andreas, Böll, Gereon, Carstensen, Avisha, Demuth, Ilya, Finkernagel, Holger, Gouni-Berthold, Ioanna, Hahmann, Harry, Hamerle, Michael, Halder, Julian, Heide, Maria, Julius, Ulrich, Kassner, Ursula, Katzmann, Julius L, Kirschbaum, Anja, Klose, Gerald, Könemann, Stephanie, König, Christel, König, Wolfgang, Krämer, Bernhard, Kuprat, Gerrit, Koschker, Ann-Cathrin, Kilic, Özlem, Lindenmeier, Gerd, Van de Loo, Iris, Lorenz, Babette, Lorenz, Elke, Löhr, Birgit, McChord, Johanna, Maslarska, Mariya, Methe, Heiko, Merkel, Martin, Moussaoui, Zineb, Müller-Kozarez, Irina, Olivier, Christoph B, Ong, Peter, Otte, Britta, Parhofer, Klaus, Partsch, Carl-Joachim, Paulus, Michael, Pehlivanli, Sinan, Pflederer, Tobias, Pusl, Thomas, Richter, Veronika, Rosner, Stefanie, Sanin, Veronika, Schäfer, Sebastian, Schäfer, Christoph, Schatz, Ulrike, Schirmer, Stephan, Schmidt, Christine, Seeger, Wolfgang, Sisovic, Snezna, Spens, Antje, Jablonski, Ksenija Stach, Stadelmann, Alexander, Steinhagen-Thiessen, Elisabeth, Stürzebecher, Paulina, Tafelmeier, Maria, Tillack, Dörthe, Tselmin, Sergey, Tünnemann-Tarr, Adrienn, Vogt, Anja, Beckerath, Jens von, Wilke, Andreas, Wolf, Ulrich, Zemmrich, Claudia, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Athyros, Vasileios, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Bilianou, Eleni, Koutagiar, Iosif, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Koutsogianni, Amalia-Despoina, Petkou, Ermioni, Milionis, Haralambos, Koulouri, Anastasia, Prodromiadou, Elisavet, Karányi, Zsolt, Harangi, Mariann, Bajnok, László, Audikovszky, Mária, Márk, László, Benczúr, Béla, Reiber, István, Nagy, Gergely, Nagy, András, Reddy, Lakshmi Lavanya, Shah, Swarup A. 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Source: In The Lancet Diabetes & Endocrinology November 2024 12(11):811-823

Association between Autism Spectrum Disorder, Trace Elements, and Intracranial Fluid Spaces.

Authors: Mlinarič, Matej¹ (AUTHOR), Jekovec Vrhovšek, Maja² (AUTHOR), Neubauer, David³ (AUTHOR), France Štiglic, Alenka⁴ (AUTHOR), Osredkar, Joško^4,5 (AUTHOR) josko.osredkar@kclj.si

Source: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8050. 16p.

Subject Terms: *AUTISM spectrum disorders, *TRACE element analysis, *MAGNETIC resonance imaging, *TRACE elements, *URINALYSIS

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Authors: Dharmayat, Kanika Inamdar ^*, Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Brandts, Julia M., Lyons, Alexander R.M., Groselj, Urh, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid, Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Binder, Christoph, Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Descamps, Olivier S., Drogari, Euridiki, Durst, Ronen, Ezhov, Marat V., Genest, Jacques, Harada-Shiba, Mariko, Holven, Kirsten B., Humphries, Steve E., Khovidhunkit, Weerapan, Lalic, Katarina, Laufs, Ulrich, Liberopoulos, Evangelos, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Davletov, Kairat, Dwiputra, Bambang, Gaita, Dan, Kayikcioglu, Meral, Latkovskis, Gustavs, Marais, A. David, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, Sabine, Thajer, Alexandra, Toplak, Hermann, Demeure, Fabian, Mertens, Ann, Balligand, Jean-Luc, Stephenne, Xavier, Sokal, Etienne, Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Hegele, Robert A, Gaudet, Daniel, Brunham, Liam, Ruel, Isabelle, McCrindle, Brian, Cuevas, Ada, Perica, Dražen, Symeonides, Phivos, Trogkanis, Efstratios, Kostis, Andreas, Ioannou, Andreas, Mouzarou, Angeliki, Georgiou, Anthoula, Stylianou, Andreas, Miltiadous, George, Iacovides, Paris, Deltas, Constantinos, Vrablik, Michal, Urbanova, Zuzana, Jesina, Pavel, Tichy, Lukas, Hyanek, Josef, Dvorakova, Jana, Cepova, Jana, Sykora, Josef, Buresova, Kristyna, Pipek, Michal, Pistkova, Eva, Bartkova, Ivana, S|ulakova, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Raphael S., Ates, Sara, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Koutagiar, Iosif, Polychronopoulos, Georgios, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. 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Source: In The Lancet 6-12 January 2024 403(10421):55-66

Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study

Authors: Alam, Jamshed, Ali, Muhammad, Anwer, Jamal, Awan, Waheed Akhtar, Bham, Shireen Qassim, Fatima, Nousheen, Gul, Farah, Hameed, Syeda Sughra, Haroon, Maryam, Hasan, Mujtaba, Jadoon, Arzu, Jamil, Shazia, Khan, Asaad Akbar, Khan, Sabeen Abid, Kidwai, Saera Suhail, Munir, Atif, Bin Nazir, Muhammad Talha, Khan Niazi, Gul Zaman, Qabulio, Sumera Nawaz, Rana, Muhammad Asim, Rehman, Adeel ur, Safdar, Saba, Shah, Saeedullah, Rehman Ahmed Sheikh, Tanzeel Ur, Yousuf, Abeer, Zehra, Kaneez, Zehra, Tehzeeb, Sadiq, Fouzia, Shafi, Saeed, Sikonja, Jaka, Khan, Madeeha, Ain, Quratul, Khan, Mohammad Iqbal, Rehman, Habibur, Mlinaric, Matej, Gidding, Samuel S., Groselj, Urh

Source: In The Lancet Regional Health - Southeast Asia May 2023 12

Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network

Authors: Abdelrazik, Alaa, Mello E Silva, Alberto, Vonbank, Alexander, Tselepis, Alexandros D., Sonmez, Alper, Passaro, Angelina, Vogt, Anja, Mertens, Ann, Verhaegen, Ann, Postadzhiyan, Arman S., Kirilmaz, Bahadir, Gungor, Baris, Hedegaard, Berit S., Cariou, Bertrand, Otte, Britta, Özkan, Buğra, Berge, Christ, Ebenbichler, Christoph F., Binder, Christoph J., Olivier, Christoph, Azzopardi, Conrad, Soler, Cristina, Gaita, Dan, Weghuber, Daniel, Ural, Dilek, Cruz, Diogo, Vinereanu, Dragos, Pencu, Elena D., Hagström, Emil, Schmidt, Erik B., Stroes, Erik S., Liberopoulos, Evangelos, Demeure, Fabian, Fimiani, Fabio, Pellegatta, Fabio, Bayram, Fahri, Henriksen, Finn L., Höllerl, Florian, Cipollone, Francesco, Araújo, Francisco, Boccara, Franck, Paillard, François, Simonyi, Gabor, Iannuzzo, Gabriella, Mandraffino, Giuseppe, Bayly, Graham, Latkovskis, Gustavs, Paragh, György, Rosolova, Hana, Soran, Handrean, Kanstrup, Helle, Toplak, Hermann, Çiçekçioğlu, Hülya, Artac, Inanc, Gouni-Berthold, Ioanna, Duzen, Irfan V., Palma, Isabel M., Reiber, Istvan, Dzivite-Krisane, Iveta, E Roeters VAN Lennep, Jeanine, Jean-Luc, J Balligand, Porto, Joao C., Duarte, João S., Sutter, Johan DE., López-Miranda, José, Mostaza, Jose M., Plisiene, Jurgita, Mert, Kadir U., Holven, Kirsten B., Retterstøl, Kjetil, Thomsen, Kristian K., Tokgozoglu, Lale, Bajnok, Laszlo, Bang, Lia E., Grigore, Liliana, Masana, Lluís, Rallidis, Loukianos S., Banach, Maciej, Waluś-Miarka, Małgorzata, Cabezas, Manuel Castro, Arca, Marcello, Viigimaa, Margus, Bogsrud, Martin P., Mlinarič, Matej, Pirro, Matteo, Averna, Maurizio, Kayikcioglu, Meral, Heitmann, Merete, Mouridsen, Mette, Vrablik, Michal, Farnier, Michel, Langlois, Michel R., Khedr, Milad, Demirbas, Muge Ildizli, Tilney, Myra, Citroni, Nadia, Riksen, Niels P., Runev, Nikolay M., Kupstyte-Kristapone, Nora, Mitchenko, Olena, Weingärtner, Oliver, Ozdogan, Oner, Muñiz-Grijalvo, Ovidio, Basaran, Ozcan, Gupta, Pankaj, Parini, Paolo, Suppressa, Patrizia, Downie, Paul, Jesina, Pavel, Kraml, Pavel, Burchardt, Pawel, Valdivielso, Pedro, Hafe, Pedro Von, Fasching, Peter, Moulin, Philippe, Rato, Quitéria, Innerhofer, Reinhold, Cífková, Renata, Valero, Rene, Scicali, Roberto, Urbánek, Robin, Kavaliauskiene, Roma, Cibulka, Roman, Zambon, Sabina, D'Addato, Sergio, Zemek, Stanislav, Romeo, Stefano, Könemann, Stephanie, Greber-Platzer, Susanne, Stulnig, Thomas, Muhr, Thomas, Khan, Tina Z., Freiberger, Tomas, Šálek, Tomáš, Vasylius, Tomas, Laufs, Ulrich, Schatz, Ulrike, Groselj, Urh, Marco-Benedi, Victoria, Maher, Vincent, Blaha, Vladimír, Soska, Vladimir, Schettler, Volker JJ., Reinhardt, Wolfgang, Pintó, Xavier, Yotov, Yoto, Petrulioniene, Zaneta, Reiner, Željko, Catapano, Alberico L., Tokgözoğlu, Lale, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, Ray, Kausik K.

Source: In Atherosclerosis April 2023 370:5-11

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

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Source: In The Lancet 6-12 November 2021 398(10312):1713-1725

Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review

Authors: Groselj, Urh, Kovac, Jernej, Sustar, Ursa, Mlinaric, Matej, Fras, Zlatko, Podkrajsek, Katarina Trebusak, Battelino, Tadej

Source: In Atherosclerosis October 2018 277:383-391

Genetic background of hypercholesterolemia in a large cohort of pediatric patients detected through universal screening program

Authors: Sustar, Ursa, Mlinaric, Matej, Kovač, Jernej, Podkrajšek, Katarina Trebušak, Battelino, Tadej, Groselj, Urh

Source: In Atherosclerosis August 2024 395 Supplement 1

Additional cardiovascular disease risk factors present in children with familial hypercholesterolemia at the first visit

Authors: Mlinaric, Matej, Sustar, Ursa, Sikonja, Jaka, Kovač, Jernej, Groselj, Urh, Battelino, Tadej

Source: In Atherosclerosis August 2024 395 Supplement 1

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Authors: Štajer, Katarina, Kovač, Neja, Šikonja, Jaka, Mlinarič, Matej, Bertok, Sara, Brecelj, Jernej, Debeljak, Maruša, Kovač, Jernej, Markelj, Gašper, Neubauer, David, Rus, Rina, Žerjav Tanšek, Mojca, Drole Torkar, Ana, Zver, Aleksandra, Battelino, Tadej, Jiménez Torres, Rosa, Grošelj, Urh

Source: In Molecular Genetics and Metabolism Reports September 2023 36

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.

Authors: Šket, Robert, Kotnik, Primož, Bizjan, Barbara Jenko, Kocen, Valentina, Mlinarič, Matej, Tesovnik, Tine, Debeljak, Maruša, Battelino, Tadej, Kovač, Jernej

Source: Frontiers in Endocrinology; 4/29/2022, Vol. 13, p1-12, 12p

Subject Terms: CHILDHOOD obesity, RECESSIVE genes, GENETIC variation, CHILD development, CELLULAR signal transduction

Universal Screening for Familial Hypercholesterolemia in Two Populations

Authors: Sustar, Ursa, Mlinaric, Matej, Kovac, Jernej, Arens, Stefan, Bizjan, Barbara Jenko, Podkrajsek, Katarina Trebusak, Danne, Thomas, Battelino, Tadej, Kordonouri, Olga, Groselj, Urh

Source: In Journal of Clinical Lipidology July-August 2022 16(3) Supplement:e52-e52