32 results on '"Gazzotti, Marta"'
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2. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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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. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodrıguez, Macıas, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Pe~na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., Arjona Villica~na, Ruy D., Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Gardu~no Garcia, Jose J., Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, and Ray, Kausik K.
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- 2024
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3. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study
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Anesi, Adriano, Arca, Marcello, Auricchio, Renata, Averna, Maurizio, Baldera, Davide, Banderali, Giuseppe, Beccuti, Guglielmo, Benso, Andrea, Berteotti, Martina, Bertolini, Stefano, Bianconi, Vanessa, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Calabrò, Paolo, Calandra, Sebastiano, Carubbi, Francesca, Cavallaro, Raimondo, Cefalù, Angelo Baldassarre, Cesaro, Arturo, Cipollone, Francesco, Citroni, Nadia, Colombo, Emanuela, Coppola, Chiara, D'Addato, Sergio, Dal Pino, Beatrice, Dalla Nora, Edoardo, De Corrado, Giuseppe, Del Ben, Maria, Di Molfetta, Sergio, Di Taranto, Maria Donata, Fainelli, Giulia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Formisano, Elena, Fortunato, Giuliana, Giaccari, Andrea, Giorgino, Francesco, Grigore, Liliana, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Iughetti, Lorenzo, Lia, Salvatore, Longo, Susanna, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Massini, Giulia, Mazza, Elisa, Melchioda, Elena, Meregalli, Giancarla, Minicocci, Ilenia, Moffa, Simona, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Negri, Emanuele Alberto, Notargiacomo, Serena, Panfili, Filippo Maria, Parati, Gianfranco, Passaro, Angelina, Pavanello, Chiara, Pecchioli, Valerio, Pecchioli, Lorenzo, Pellegatta, Fabio, Perla, Francesco Massimo, Pipolo, Antonio, Piro, Salvatore, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Putotto, Carolina, Repetti, Elena, Rinaldi, Elisabetta, Romandini, Alessandra, Sani, Elena, Sarnari, Silvia, Sarzani, Riccardo, Sbrana, Francesco, Scicali, Roberto, Scuruchi, Michele, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Vinci, Pierandrea, Werba, José Pablo, Zambon, Sabina, Zambon, Alberto, Zenti, Maria Grazia, Casula, Manuela, Gazzotti, Marta, Capra, Maria Elena, Olmastroni, Elena, Galimberti, Federica, Catapano, Alberico L., and Pederiva, Cristina
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- 2023
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4. Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network
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Catapano, Alberico L., Tokgözoğlu, Lale, Banach, Maciej, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, and Ray, Kausik K.
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- 2023
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5. Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group
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Pederiva, Cristina, Capra, Maria Elena, Biasucci, Giacomo, Banderali, Giuseppe, Fabrizi, Enrico, Gazzotti, Marta, Casula, Manuela, and Catapano, Alberico L.
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- 2022
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6. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
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Tromp, Tycho R., Hartgers, Merel L., Hovingh, G. Kees, Vallejo-Vaz, Antonio J., Ray, Kausik K., Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano A., Harada-Shiba, Mariko, Pang, Jing, Watts, Gerald F., Greber-Platzer, Susanne, Mäser, Martin, Stulnig, Thomas M., Ebenbichler, Christoph F., Bin Thani, Khalid, Cassiman, David, Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Santos, Raul D., Brunham, Liam R., Francis, Gordon A., Genest, Jacques, Hegele, Robert A., Kennedy, Brooke A., Ruel, Isabelle, Sherman, Mark H., Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Lukas, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, Elisaf, Moses S., Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, Dann, Eldad J., Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Al-Khnifsawi, Mutaz, Abdalsahib Al-Zamili, Ali F., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, Catapano, Alberico L., Cefalù, Angelo B., Cicero, Arrigo F.G., D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, Negri, Emanuele A., Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Zenti, Maria G., Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Fahed, Akl C., Moubarak, Elie M., Nemer, Georges, Nawawi, Hapizah M., Madriz, Ramón, Mehta, Roopa, Cupido, Arjen J., Defesche, Joep C., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Stroes, Erik S.G., Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, Gaspar, Isabel M., Lalic, Katarina S., Ezhov, Marat V., Susekov, Andrey V., Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, Kaynar, Leyla G., Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Sag, Saim, Salcioglu, Osman Z., Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, Lyons, Alexander R.M., Stevens, Christophe A.T., Brothers, Julie A., Hudgins, Lisa C., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, Nguyen, Mai-Ngoc T., Truong, Thanh-Huong, Blom, Dirk J., Raal, Frederick J., Cuchel, Marina, Tromp, Tycho R, Hartgers, Merel L, Hovingh, G Kees, Vallejo-Vaz, Antonio J, Ray, Kausik K, Bertolini, Stefano, Blom, Dirk J, and Raal, Frederick J
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- 2022
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7. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
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Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Lyons, Alexander R.M., Dharmayat, Kanika I., 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, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Araujo, Francisco, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Benn, Marianne, Binder, Christoph J., Bogsrud, Martin P., Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Davletov, Kairat, Descamps, Olivier S., Durst, Ronen, Ezhov, Marat, Gaita, Dan, Genest, Jacques, 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, Raslova, Katarina, Reda, Ashraf, Reiner, Željko, Sadiq, Fouzia, Sadoh, Wilson Ehidiamen, Schunkert, Heribert, Shek, Aleksandr B., Stoll, Mario, Stroes, Erik, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Tilney, Myra, Tomlinson, Brian, Truong, Thanh Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez Cárdenas, Alejandra, Viigimaa, Margus, Wang, Luya, Yamashita, Shizuya, Kastelein, John J.P., Bruckert, Eric, Vohnout, Branislav, 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., Sablon, Gaelle, Tarantino, Eric, Nzeyimana, Charlotte, Pojskic, Lamija, Sisic, Ibrahim, Nalbantic, Azra D., 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, Brunham, Liam R., 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, Cuevas, Ada, Asenjo, Sylvia, 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, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed A., Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Angoulvant, Denis, Boccara, Franck, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di-Fillipo, Mathilde, Ducluzeau, Pierre H., Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, hankard, Regis, Inamo, Jocelyne, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnès, Pradignac, Alain, Rabes, Jean P., Rigalleau, Vincent, Sultan, Ariane, Schiele, François, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cécile, Ziegler, Olivier, Haack, Ira A., Schmidt, Nina, Dressel, Alexander, Klein, Isabel, Christmann, Jutta, Sonntag, Antonia, Stumpp, Christine, Boger, Diana, Biedermann, Dana, Usme, Monica M.N., Beil, F. Ulrich, Klose, Gerald, König, Christel, Gouni-Berthold, Ioanna, Otte, Britta, Böll, Gereon, Kirschbaum, Anja, Merke, Jürgen, Scholl, Johannes, Segiet, Thomas, Gebauer, Marco, Predica, Florentina, Mayer, Manfred, Leistikow, Frank, Füllgraf-Horst, Sabine, Müller, Cornelius, Schüler, Melanie, Wiener, Judith, Hein, Konrad, Baumgartner, Peter, Kopf, Stefan, Busch, Reinhold, Schömig, Michael, Matthias, Stephan, Allendorf-Ostwald, Nicole, Fink, Bruno, Böhm, Dieter, Jäkel, Alexander, Koschker, Ann-Cathrin, Schweizer, Rüdiger, Vogt, Anja, Parhofer, Klaus, König, Wolfgang, Reinhard, Wibke, Bäßler, Andrea, Stadelmann, Alexander, Schrader, Volker, Katzmann, Julius, Tarr, Adrienne, Steinhagen-Thiessen, Elisabeth, Kassner, Ursula, Paulsen, Gerret, Homberger, Jürgen, Zemmrich, Claudia, Seeger, Wolfgang, Biolik, Kathrin, Deiss, Dorothee, Richter, Corinna, Pantchechnikova, Elina, Dorn, Elena, Schatz, Ulrike, Julius, Ulrich, Spens, Antje, Wiesner, Tobias, Scholl, Michael, Rizos, Christos V., Sakkas, Nikolaos, Elisaf, Moses, Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Athyros, Vasileios, Skalidis, Emmanouil, Kolovou, Genovefa, Garoufi, Anastasia, Bilianou, Eleni, Koutagiar, Iosif, Agapakis, Dimitrios, Kiouri, Estela, Antza, Christina, Katsiki, Niki, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Koutsogianni, Amalia-Despoina, Karányi, Zsolt, Harangi, Mariann, Bajnok, László, Audikovszky, Mária, Márk, László, Benczúr, Béla, Reiber, István, Nagy, Gergely, Nagy, András, Reddy, Lakshmi L., Shah, Swarup A.V., Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Altaey, Mays, Al-Jumaily, Khalid, Rasul, Dilshad, Abdalsahib, Ali F., Jabbar, Amer A., Al-ageedi, Mohanad, Agar, Ruth, Cohen, Hofit, Ellis, Avishay, Gavishv, Dov, Harats, Dror, Henkin, Yaacov, Knobler, Hila, Leavit, Leah, Leitersdorf, Eran, Rubinstein, Ardon, Schurr, Daniel, Shpitzen, Shoshi, Szalat, Auryan, Casula, Manuela, Zampoleri, Veronica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Sabbà, Carlo, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Purrello, Francesco, Pujia, Arturo, Passaro, Angelina, Marcucci, Rossella, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, Josè Pablo, Parati, Gianfranco, Carubbi, Francesca, Iughetti, Lorenzo, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Calabrò, Paolo, Averna, Maurizio, Biasucci, Giacomo, Zambon, Sabina, Roscini, Anna Rita, Trenti, Chiara, Arca, Marcello, Federici, Massimo, Del Ben, Maria, Bartuli, Andrea, Giaccari, Andrea, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Bonomo, Katia, Benso, Andrea, Biolo, Gianni, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Zenti, Maria Grazia, Matsuki, Kota, Hori, Mika, Ogura, Masatsune, Masuda, Daisaku, Kobayashi, Takuya, Nagahama, Kumiko, Al-Jarallah, Mohammed, Radovic, Mirjana, Lunegova, Olga, Bektasheva, Erkayim, Khodzhiboboev, Elyor, Erglis, Andrejs, Gilis, Dainus, Nesterovics, Georgijs, Saripo, Vita, Meiere, Ruta, Upena-RozeMicena, Arta, Terauda, Elizabete, Jambart, Selim, Khoury, Petra E., Elbitar, Sandy, Ayoub, Carine, Ghaleb, Youmna, Aliosaitiene, Urte, Kutkiene, Sandra, Kasim, Noor A.M., Nor, Noor S.M., Ramli, Anis S., Razak, Suraya A., Al-Khateeb, Alyaa, Kadir, Siti H.S.A., Muid, Suhaila A., Rahman, Thuhairah A., Kasim, Sazzli S., Radzi, Ahmad B.M., Ibrahim, Khairul S., Razali, Salmi, Ismail, Zaliha, Ghani, Rohana A., Hafidz, Muhammad I.A., Chua, Ang L., Rosli, Marshima M., Annamalai, Muthukkaruppan, Teh, Lay K., Razali, Rafezah, Chua, Yung A., Rosman, Azhari, Sanusi, Abdul R., Murad, Nor A.A., Jamal, A. Rahman A., Nazli, Sukma A., Razman, Aimi Z., Rosman, Norhidayah, Rahmat, Radzi, Hamzan, Nur S., Azzopardi, C., Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A.G., Villa, Neftali E.A., Vazquez, Arsenio V., Elias-Lopez, Daniel, Retana, Gustavo G., Rodriguez, Betsabel, Macías, Jose J.C., Zazueta, Alejandro R., Alvarado, Rocio M., Portano, Julieta D.M., Lopez, Humberto A., Sauque-Reyna, Leobardo, Herrera, Laura G.G., Mendia, Luis E.S., Aguilar, Humberto Garcia, Cooremans, Elizabeth R., Aparicio, Berenice P., Zubieta, Victoria M., Gonzalez, Perla A.C., Ferreira-Hermosillo, Aldo, Portilla, Nacu C., Dominguez, Guadalupe J., Garcia, Alinna Y.R., Cazares, Hector E.A., Gonzalez, Jesus R., Valencia, Carla V.M., Padilla, Francisco G., Prado, Ramon M., De los Rios Ibarra, Manuel O., Villicaña, Ruy D.A., Rivera, Karina J.A., Carrera, Ricardo A., Alvarez, Jose A., Martinez, Jose C.A., de los Reyes Barrera Bustillo, Manuel, Vargas, Gonzalo C., Chacon, Roberto C., Andrade, Mario H.F., Ortega, Ashanty F., Alcala, Hector G., de Leon, Laura E.G., Guzman, Berenice G., Garcia, Jose J.G., Cuellar, Juan C.G., Cruz, Jose R.G., Garcia, Anell Hernandez, Almada, Jesus R.H., Herrera, Ursulo J., Sobrevilla, Fabiola L., Rodriguez, Eduardo M., Sibaja, Cristina M., Rodriguez, Alma B.M., Oyervides, Jose C.M., Vazquez, Daniel I.P., Rodriguez, Eduardo A.R., Osorio, Ma L.R., Saucedo, Juan R., Tamayo, Margarita T., Talavera, Luis A.V., Arroyo, Luis E.V., Carrillo, Eloy A.Z., Isara, Alphonsus, Obaseki, Darlington E., Al-Waili, Khalid, Al-Zadjali, Fahad, Al-Zakwani, Ibrahim, Al-Kindi, Mohammed, Al-Mukhaini, Suad, Al-Barwani, Hamida, Rana, Asim, Shah, Lahore S.U., Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bartłomiejczyk, Marcin, Gąsior, Mariusz, Dyrbuś, Krzysztof, Jóźwiak, Jacek, Gruchała, Marcin, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Woś, Marlena, Michalska-Grzonkowska, Aleksandra, Medeiros, Ana M., Alves, Ana C., Silva, Francisco, Lobarinhas, Goreti, Palma, Isabel, de Moura, Jose P., Rico, Miguel T., Rato, Quitéria, Pais, Patrícia, Correia, Susana, Moldovan, Oana, Virtuoso, Maria J., Salgado, Jose M., Colaço, Ines, Dumitrescu, Andreea, Lengher, Calin, Mosteoru, Svetlana, Meshkov, Alexey, Ershova, Alexandra, Rozkova, Tatiana, Korneva, Victoria, Yu, Kuznetsova T., Zafiraki, Vitaliy, Voevoda, Mikhail, Gurevich, Victor, Duplyakov, Dmitry, Ragino, Yulia, Safarova, Maya, Shaposhnik, Igor, Alkaf, Fahmi, Khudari, Alia, Rwaili, Nawal, Al-Allaf, Faisal, Alghamdi, Mohammad, Batais, Mohammed A., Almigbal, Turky H., Kinsara, Abdulhalim, AlQudaimi, Ashraf H.A., Awan, Zuhier, Elamin, Omer A., Altaradi, Hani, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Stosic, Ljubica, Rasulic, Iva, Lalic, Nebojsa M., Lam, Carolyn, Le, Tan J., Siang, Eric L.T., Dissanayake, Sanjaya, I-Shing, Justin T., Shyong, Tai E., Jin, Terrance C.S., Balinth, Karin, Buganova, Ingrid, Fabryova, Lubomira, Kadurova, Michaela, Klabnik, Alexander, Kozárová, Miriam, Sirotiakova, Jana, Battelino, Tadej, Kovac, Jernej, Mlinaric, Matej, Sustar, Ursa, Podkrajsek, Katarina T., Fras, Zlatko, Jug, Borut, Cevc, Matija, Pilcher, Gillian J., Blom, D.J., Wolmarans, K.H., Brice, B.C., Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose L., de Isla, Leopoldo P., Fuentes, Francisco, Badimon, Lina, Martin, François, Lux, Angela, Chang, Nien-Tzu, Ganokroj, Poranee, Akbulut, Mehmet, Alici, Gökhan, Bayram, Fahri, Can, Levent H., Celik, Ahmet, Ceyhan, Ceyhun, Coskun, Fatma Y., Demir, Mesut, Demircan, Sabri, Dogan, Volkan, Durakoglugil, Emre, Dural, Ibrahim E., Gedikli, Omer, Hacioglu, Aysa, Ildizli, Muge, Kilic, Salih, Kirilmaz, Bahadir, Kutlu, Merih, Oguz, Aytekin, Ozdogan, Oner, Onrat, Ersel, Ozer, Savas, Sabuncu, Tevfik, Sahin, Tayfun, Sivri, Fatih, Sonmez, Alper, Temizhan, Ahmet, Topcu, Selim, Tuncez, Abdullah, Vural, Mirac, Yenercag, Mustafa, Yesilbursa, Dilek, Yigit, Zerrin, Yildirim, Aytul B., Yildirir, Aylin, Yilmaz, Mehmet B., Atallah, Bassam, Traina, Mahmoud, Sabbour, Hani, Hay, Dana A., Luqman, Neama, Elfatih, Abubaker, Abdulrasheed, Arshad, Kwok, See, Oca, Nicolas D., Reyes, Ximena, Alieva, Rano B., Kurbanov, Ravshanbek D., Hoshimov, Shavkat U., Nizamov, Ulugbek I., Ziyaeva, Adolat V., Abdullaeva, Guzal J., Do, Doan L., Nguyen, Mai N.T., Kim, Ngoc T., Le, Thanh T., Le, Hong A., Tokgozoglu, Lale, Catapano, Alberico L., and Ray, Kausik K.
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- 2021
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8. Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis
- Author
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Di Costanzo, Alessia, Minicocci, Ilenia, D'Erasmo, Laura, Commodari, Daniela, Covino, Stella, Bini, Simone, Ghadiri, Ameneh, Ceci, Fabrizio, Maranghi, Marianna, Catapano, Alberico L., Gazzotti, Marta, Casula, Manuela, Montali, Anna, and Arca, Marcello
- Published
- 2021
- Full Text
- View/download PDF
9. Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
- Author
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D'Erasmo, Laura, Bini, Simone, Casula, Manuela, Gazzotti, Marta, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Iannuzzo, Gabriella, Fortunato, Giuliana, Catapano, Alberico L, Arca, Marcello, and group, LIPIGEN HoFH
- Published
- 2024
- Full Text
- View/download PDF
10. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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Dharmayat, Kanika Inamdar, primary, Vallejo-Vaz, Antonio J., additional, Stevens, Christophe A.T., additional, Brandts, Julia M., additional, Lyons, Alexander R.M., additional, Groselj, Urh, additional, Abifadel, Marianne, additional, Aguilar-Salinas, Carlos A., additional, Alhabib, Khalid, additional, Alkhnifsawi, Mutaz, additional, Almahmeed, Wael, additional, Alnouri, Fahad, additional, Alonso, Rodrigo, additional, Al-Rasadi, Khalid, additional, Ashavaid, Tester F., additional, Banach, Maciej, additional, Béliard, Sophie, additional, Binder, Christoph, additional, Bourbon, Mafalda, additional, Chlebus, Krzysztof, additional, Corral, Pablo, additional, Cruz, Diogo, additional, Descamps, Olivier S., additional, Drogari, Euridiki, additional, Durst, Ronen, additional, Ezhov, Marat V., additional, Genest, Jacques, additional, Harada-Shiba, Mariko, additional, Holven, Kirsten B., additional, Humphries, Steve E., additional, Khovidhunkit, Weerapan, additional, Lalic, Katarina, additional, Laufs, Ulrich, additional, Liberopoulos, Evangelos, additional, Roeters van Lennep, Jeanine, additional, Lima-Martinez, Marcos Miguel, additional, Lin, Jie, additional, Maher, Vincent, additional, März, Winfried, additional, Miserez, André R., additional, Mitchenko, Olena, additional, Nawawi, Hapizah, additional, Panayiotou, Andrie G., additional, Paragh, György, additional, Postadzhiyan, Arman, additional, Reda, Ashraf, additional, Reiner, Željko, additional, Reyes, Ximena, additional, Sadiq, Fouzia, additional, Sahebkar, Amirhossein, additional, Schunkert, Heribert, additional, Shek, Aleksandr B., additional, Stroes, Eric, additional, Su, Ta-Chen, additional, Subramaniam, Tavintharan, additional, Susekov, Andrey, additional, Vázquez Cárdenas, Alejandra, additional, Huong Truong, Thanh, additional, Tselepis, Alexandros D., additional, Vohnout, Branislav, additional, Wang, Luya, additional, Yamashita, Shizuya, additional, Al-Sarraf, Ahmad, additional, Al-Sayed, Nasreen, additional, Davletov, Kairat, additional, Dwiputra, Bambang, additional, Gaita, Dan, additional, Kayikcioglu, Meral, additional, Latkovskis, Gustavs, additional, Marais, A. David, additional, Thushara Matthias, Anne, additional, Mirrakhimov, Erkin, additional, Nordestgaard, Børge G., additional, Petrulioniene, Zaneta, additional, Pojskic, Belma, additional, Sadoh, Wilson, additional, Tilney, Myra, additional, Tomlinson, Brian, additional, Tybjærg-Hansen, Anne, additional, Viigimaa, Margus, additional, Catapano, Alberico L., additional, Freiberger, Tomas, additional, Hovingh, G. Kees, additional, Mata, Pedro, additional, Soran, Handrean, additional, Raal, Frederick, additional, Watts, Gerald F., additional, Schreier, Laura, additional, Bañares, Virginia, additional, Greber-Platzer, Susanne, additional, Baumgartner-Kaut, Margot, additional, de Gier, Charlotte, additional, Dieplinger, Hans, additional, Höllerl, Florian, additional, Innerhofer, Reinhold, additional, Karall, Daniela, additional, Lischka, Julia, additional, Ludvik, Bernhard, additional, Mäser, Martin, additional, Scholl-Bürgi, Sabine, additional, Thajer, Alexandra, additional, Toplak, Hermann, additional, Demeure, Fabian, additional, Mertens, Ann, additional, Balligand, Jean-Luc, additional, Stephenne, Xavier, additional, Sokal, Etienne, additional, Petrov, Ivo, additional, Goudev, Assen, additional, Nikolov, Fedya, additional, Tisheva, Snejana, additional, Yotov, Yoto, additional, Tzvetkov, Ivajlo, additional, Hegele, Robert A, additional, Gaudet, Daniel, additional, Brunham, Liam, additional, Ruel, Isabelle, additional, McCrindle, Brian, additional, Cuevas, Ada, additional, Perica, Dražen, additional, Symeonides, Phivos, additional, Trogkanis, Efstratios, additional, Kostis, Andreas, additional, Ioannou, Andreas, additional, Mouzarou, Angeliki, additional, Georgiou, Anthoula, additional, Stylianou, Andreas, additional, Miltiadous, George, additional, Iacovides, Paris, additional, Deltas, Constantinos, additional, Vrablik, Michal, additional, Urbanova, Zuzana, additional, Jesina, Pavel, additional, Tichy, Lukas, additional, Hyanek, Josef, additional, Dvorakova, Jana, additional, Cepova, Jana, additional, Sykora, Josef, additional, Buresova, Kristyna, additional, Pipek, Michal, additional, Pistkova, Eva, additional, Bartkova, Ivana, additional, S|ulakova, Astrid, additional, Toukalkova, Lenka, additional, Spenerova, Michaela, additional, Maly, Jan, additional, Benn, Marianne, additional, Bendary, Ahmed, additional, Elbahry, Atef, additional, Ferrières, Jean, additional, Ferrieres, Dorota, additional, Peretti, Noel, additional, Bruckert, Eric, additional, Gallo, Antonio, additional, Valero, René, additional, Mourre, Florian, additional, Aouchiche, Karine, additional, Reynaud, Rachel, additional, Tounian, Patrick, additional, Lemale, Julie, additional, Boccara, Franck, additional, Moulin, Philippe, additional, Charrières, Sybil, additional, Di Filippo, Mathilde, additional, Cariou, Bertrand, additional, Paillard, François, additional, Dourmap, Caroline, additional, Pradignac, Alain, additional, Verges, Bruno, additional, Simoneau, Isabelle, additional, Farnier, Michel, additional, Cottin, Yves, additional, Yelnik, Cecile, additional, Hankard, Regis, additional, Schiele, François, additional, Durlach, Vincent, additional, Sultan, Ariane, additional, Carrié, Alain, additional, Rabès, Jean-Pierre, additional, Sanin, Veronika, additional, Schmieder, Roland, additional, Ates, Sara, additional, Rizos, Christos V., additional, Skoumas, Ioannis, additional, Tziomalos, Konstantinos, additional, Rallidis, Loukianos, additional, Kotsis, Vasileios, additional, Doumas, Michalis, additional, Skalidis, Emmanouil, additional, Kolovou, Genovefa, additional, Kolovou, Vana, additional, Garoufi, Anastasia, additional, Koutagiar, Iosif, additional, Polychronopoulos, Georgios, additional, Kiouri, Estela, additional, Antza, Christina, additional, Zacharis, Evangelos, additional, Attilakos, Achilleas, additional, Sfikas, George, additional, Koumaras, Charalambos, additional, Anagnostis, Panagiotis, additional, Anastasiou, Georgia, additional, Liamis, George, additional, Adamidis, Petros-Spyridon, additional, Milionis, Haralambos, additional, Lambadiari, Vaia, additional, Stabouli, Stella, additional, Filippatos, Theodosios, additional, Mollaki, Vicky, additional, Tsaroumi, Anastasia, additional, Lamari, Frida, additional, Proyias, Pavlos, additional, Harangi, Mariann, additional, Reddy, Lakshmi Lavanya, additional, Shah, Swarup A. V, additional, Ponde, Chandrashekhar K., additional, Dalal, Jamshed J., additional, Sawhney, Jitendra P.S., additional, Verma, Ishwar C., additional, Hosseini, Susan, additional, Jamialahmadi, Tannaz, additional, Alareedh, Mohammed, additional, Shaghee, Foaad, additional, Rhadi, Sabah Hasan, additional, Abduljalal, Maryam, additional, Alfil, Sarmad, additional, Kareem, Huda, additional, Cohen, Hofit, additional, Leitersdorf, Eran, additional, Schurr, Daniel, additional, Shpitzen, Shoshi, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Casula, Manuela, additional, Galimberti, Federica, additional, Gazzotti, Marta, additional, Olmastroni, Elena, additional, Sarzani, Riccardo, additional, Ferri, Claudio, additional, Repetti, Elena, additional, Giorgino, Francesco, additional, Suppressa, Patrizia, additional, Bossi, Antonio Carlo, additional, Borghi, Claudio, additional, Muntoni, Sandro, additional, Cipollone, Francesco, additional, Scicali, Roberto, additional, Pujia, Arturo, additional, Passaro, Angelina, additional, Berteotti, Martina, additional, Pecchioli, Valerio, additional, Pisciotta, Livia, additional, Mandraffino, Giuseppe, additional, Pellegatta, Fabio, additional, Mombelli, Giuliana, additional, Branchi, Adriana, additional, Fiorenza, Anna Maria, additional, Pederiva, Cristina, additional, Werba, José Pablo, additional, Parati, Gianfranco, additional, Nascimbeni, Fabio, additional, Iughetti, Lorenzo, additional, Fortunato, Giuliana, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Calabrò, Paolo, additional, Cefalù, Angelo Baldassare, additional, Capra, Maria Elena, additional, Zambon, Alberto, additional, Pirro, Matteo, additional, Sbrana, Francesco, additional, Trenti, Chiara, additional, Minicocci, Ilenia, additional, Federici, Massimo, additional, Del Ben, Maria, additional, Buonuomo, Paola Sabrina, additional, Moffa, Simona, additional, Pipolo, Antonio, additional, Citroni, Nadia, additional, Guardamagna, Ornella, additional, Lia, Salvatore, additional, Benso, Andrea, additional, Biolo, Gianni Biolo, additional, Maroni, Lorenzo, additional, Lupi, Alessandro, additional, Bonanni, Luca, additional, Rinaldi, Elisabetta, additional, Zenti, Maria Grazia, additional, Masuda, Daisaku, additional, Mahfouz, Linda, additional, Jambart, Selim, additional, Ayoub, Carine, additional, Ghaleb, Youmna, additional, Kasim, Noor Alicezah Mohd, additional, Nor, Noor Shafina Mohd, additional, Al-Khateeb, Alyaa, additional, Kadir, Siti Hamimah Sheikh Abdul, additional, Chua, Yung-An, additional, Razman, Aimi Zafira, additional, Nazli, Sukma Azureen, additional, Ranai, Norashikin Mohd, additional, Latif, Ahmad Zubaidi Abd, additional, Torres, María Teresa Magaña, additional, Mehta, Roopa, additional, Martagon, Alexandro J., additional, Ramirez, Gabriela A. Galan, additional, Antonio-Villa, Neftali Eduardo, additional, Vargas-Vazquez, Arsenio, additional, Elias-Lopez, Daniel, additional, Retana, Gustavo Gonzalez, additional, Encinas, Bethsabel Rodriguez, additional, Macias, Jose J. Ceballos, additional, Zazueta, Alejandro Romero, additional, Alvarado, Rocio Martinez, additional, Portano, Julieta D. Morales, additional, Lopez, Humberto Alvares, additional, Sauque-Reyna, Leobardo, additional, Gomez Herrera, Laura G., additional, Simental Mendia, Luis E., additional, Aguilar, Humberto Garcia, additional, Cooremans, Elizabeth Ramirez, additional, Aparicio, Berenice Pe~na, additional, Zubieta, Victoria Mendoza, additional, Gonzalez, Perla A. Carrillo, additional, Ferreira-Hermosillo, Aldo, additional, Portilla, Nacu Caracas, additional, Dominguez, Guadalupe Jimenez, additional, Garcia, Alinna Y. Ruiz, additional, Arriaga Cazares, Hector E., additional, Gonzalez Gonzalez, Jesus R., additional, Mendez Valencia, Carla V., additional, Padilla Padilla, Francisco G., additional, Prado, Ramon Madriz, additional, De los Rios Ibarra, Manuel O., additional, Arjona Villica~na, Ruy D., additional, Acevedo Rivera, Karina J., additional, Carrera, Ricardo Allende, additional, Alvarez, Jose A., additional, Amezcua Martinez, Jose C., additional, Barrera Bustillo, Manuel de los Reyes, additional, Vargas, Gonzalo Carazo, additional, Chacon, Roberto Contreras, additional, Figueroa Andrade, Mario H., additional, Ortega, Ashanty Flores, additional, Alcala, Hector Garcia, additional, Garcia de Leon, Laura E., additional, Guzman, Berenice Garcia, additional, Gardu~no Garcia, Jose J., additional, Garnica Cuellar, Juan C., additional, Gomez Cruz, Jose R., additional, Garcia, Anell Hernandez, additional, Holguin Almada, Jesus R., additional, Herrera, Ursulo Juarez, additional, Sobrevilla, Fabiola Lugo, additional, Rodriguez, Eduardo Marquez, additional, Sibaja, Cristina Martinez, additional, Medrano Rodriguez, Alma B., additional, Morales Oyervides, Jose C., additional, Perez Vazquez, Daniel I., additional, Reyes Rodriguez, Eduardo A., additional, Osorio, Ma. Ludivina Robles, additional, Saucedo, Juan Rosas, additional, Tamayo, Margarita Torres, additional, Valdez Talavera, Luis A., additional, Vera Arroyo, Luis E., additional, Zepeda Carrillo, Eloy A., additional, Galema-Boers, Annette, additional, Weigman, Albert, additional, Bogsrud, Martin P., additional, Malik, Munir, additional, Shah, Saeedullah, additional, Khan, Sabeen Abid, additional, Rana, Muhammad Asim, additional, Batool, Hijab, additional, Starostecka, Ewa, additional, Konopka, Agnieszka, additional, Lewek, Joanna, additional, Bielecka-Dąbrowa, Agata, additional, Gach, Agnieszka, additional, Jóźwiak, Jacek, additional, Pajkowski, Marcin, additional, Romanowska-Kocejko, Marzena, additional, Żarczyńska-Buchowiecka, Marta, additional, Hellman, Marcin, additional, Chmara, Magdalena, additional, Wasąg, Bartosz, additional, Parczewska, Aleksandra, additional, Gilis-Malinowska, Natasza, additional, Borowiec-Wolna, Justyna, additional, Stróżyk, Aneta, additional, Michalska-Grzonkowska, Aleksandra, additional, Chlebus, Izabela, additional, Kleinschmidt, Mariola, additional, Wojtecka, Agnieszka, additional, Zdrojewski, Tomasz, additional, Myśliwiec, Małgorzata, additional, Hennig, Matylda, additional, Medeiros, Ana Margarida, additional, Alves, Ana Catarina, additional, Almeida, Ana Filipa, additional, Lopes, Andreia, additional, Guerra, António, additional, Bilhoto, Carla, additional, Simões, Fernando, additional, Silva, Francisco, additional, Lobarinhas, Goreti, additional, Gama, Guida, additional, Palma, Isabel, additional, Salgado, José Miguel, additional, Matos, Luísa Diogo, additional, Moura, Márcio de, additional, Virtuoso, Maria João, additional, Tavares, Mónica, additional, Ferreira, Patrícia, additional, Pais, Patrícia, additional, Garcia, Paula, additional, Coelho, Raquel, additional, Ribeiro, Raquel, additional, Correia, Susana, additional, Sadykova, Dinara, additional, Slastnikova, Evgenia, additional, Alammari, Dalal, additional, Mawlawi, Horia Ahmed, additional, Alsahari, Atif, additional, Khudary, Alia Abdullah, additional, Alrowaily, Nawal Lafi, additional, Rajkovic, Natasa, additional, Popovic, Ljiljana, additional, Singh, Sandra, additional, Rasulic, Iva, additional, Petakov, Ana, additional, Lalic, Nebojsa M., additional, Peng, Fabian Kok, additional, Vasanwala, Rashida Farhan, additional, Venkatesh, Sreedharan Aravind, additional, Raslova, Katarina, additional, Fabryova, Lubomira, additional, Nociar, Jan, additional, Šaligova, Jana, additional, Potočňáková, Ludmila, additional, Kozárová, Miriam, additional, Varga, Tibor, additional, Kadurova, Michaela, additional, Debreova, Marianna, additional, Novodvorsky, Peter, additional, Gonova, Katarina, additional, Klabnik, Alexander, additional, Buganova, Ingrid, additional, Battelino, Tadej, additional, Bizjan, Barbara Jenko, additional, Debeljak, Marusa, additional, Kovac, Jernej, additional, Mlinaric, Matej, additional, Molk, Neza, additional, Sikonja, Jaka, additional, Sustar, Ursa, additional, Podkrajsek, Katarina Trebusak, additional, Muñiz-Grijalvo, Ovidio, additional, Díaz-Díaz, Jose Luis, additional, de Andrés, Raimundo, additional, Fuentes-Jiménez, Francisco, additional, Blom, Dirk, additional, Miserez, Eleonore B., additional, Shipton, Janine L., additional, Ganokroj, Poranee, additional, Futema, Marta, additional, Ramaswami, Uma, additional, Alieva, Rano B., additional, Fozilov, Khurshid G., additional, Khoshimov, Shavkat U., additional, Nizamov, Ulugbek I., additional, Abdullaeva, Guzal J., additional, Kan, Liliya E., additional, Abdullaev, Alisher A., additional, Zakirova, Daria V., additional, Do, Doan-Loi, additional, Nguyen, Mai-Ngoc-Thi, additional, Kim, Ngoc-Thanh, additional, Le, Thanh-Tung, additional, Le, Hong-An, additional, Santos, Raul, additional, and Ray, Kausik K., additional
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- 2023
- Full Text
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11. Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
- Author
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D’Erasmo, Laura, Bini, Simone, Casula, Manuela, Gazzotti, Marta, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Iannuzzo, Gabriella, Fortunato, Giuliana, Catapano, Alberico L, and Arca, Marcello
- Abstract
Contemporary real-world data from the Italian cohort of patients affected by homozygous familial hypercholesterolaemia demonstrated that the addition of novel, low-density lipoprotein receptor (LDLR)-independent medications to conventional therapies allowed the achievement of unprecedented low-density lipoprotein cholesterol (LDL-C) values with a trend towards a reduction of cardiovascular risk.Graphical Abstract
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- 2024
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- View/download PDF
12. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study
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Casula, Manuela, primary, Gazzotti, Marta, additional, Capra, Maria Elena, additional, Olmastroni, Elena, additional, Galimberti, Federica, additional, Catapano, Alberico L., additional, Pederiva, Cristina, additional, Anesi, Adriano, additional, Arca, Marcello, additional, Auricchio, Renata, additional, Averna, Maurizio, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Beccuti, Guglielmo, additional, Benso, Andrea, additional, Berteotti, Martina, additional, Bertolini, Stefano, additional, Bianconi, Vanessa, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Calabrò, Paolo, additional, Calandra, Sebastiano, additional, Carubbi, Francesca, additional, Cavallaro, Raimondo, additional, Cefalù, Angelo Baldassarre, additional, Cesaro, Arturo, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Colombo, Emanuela, additional, Coppola, Chiara, additional, D'Addato, Sergio, additional, Dal Pino, Beatrice, additional, Dalla Nora, Edoardo, additional, De Corrado, Giuseppe, additional, Del Ben, Maria, additional, Di Molfetta, Sergio, additional, Di Taranto, Maria Donata, additional, Fainelli, Giulia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Formisano, Elena, additional, Fortunato, Giuliana, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Grigore, Liliana, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lia, Salvatore, additional, Longo, Susanna, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Massini, Giulia, additional, Mazza, Elisa, additional, Melchioda, Elena, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Notargiacomo, Serena, additional, Panfili, Filippo Maria, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pavanello, Chiara, additional, Pecchioli, Valerio, additional, Pecchioli, Lorenzo, additional, Pellegatta, Fabio, additional, Perla, Francesco Massimo, additional, Pipolo, Antonio, additional, Piro, Salvatore, additional, Pirro, Matteo, additional, Pisciotta, Livia, additional, Pujia, Roberta, additional, Putotto, Carolina, additional, Repetti, Elena, additional, Rinaldi, Elisabetta, additional, Romandini, Alessandra, additional, Sani, Elena, additional, Sarnari, Silvia, additional, Sarzani, Riccardo, additional, Sbrana, Francesco, additional, Scicali, Roberto, additional, Scuruchi, Michele, additional, Suppressa, Patrizia, additional, Tarugi, Patrizia, additional, Trenti, Chiara, additional, Vinci, Pierandrea, additional, Werba, José Pablo, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, and Zenti, Maria Grazia, additional
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- 2023
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13. Heterogeneity of the genetic background and phenotypic expression of familial hypercholesterolaemia in two cohorts from Italy and Russia
- Author
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Galimberti, Federica, Alieva, Asiiat, Di Costanzo, Alessia, Gazzotti, Marta, Reutova, Olga, Usova, Elena, Bakaleiko, Viktoria, Arca, Marcello, D'Erasmo, Laura, Pellegatta, Fabio, Olmastroni, Elena, Catapano, Alberico, and Casula, Manuela
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- 2024
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14. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
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Olmastroni, Elena, Gazzotti, Marta, Averna, Maurizio, Arca, Marcello, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano, Catapano, Alberico L, Casula, Manuela, Laura D'Erasmo, Angelo Baldassare Cefalu, Andrea Bartuli, Paola Sabrina Buonuomo, Andrea Benso, Guglielmo Beccuti, Giacomo Biasucci, Maria Elena Capra, Gianni Biolo, Pierandrea Vinci, Luca Bonanni, Claudio Borghi, Sergio D'Addato, Antonio Carlo Bossi, Giancarla Meregalli, Adriana Branchi, Paolo Calabrò, Francesca Carubbi, Fabio Nascimbeni, Francesco Cipollone, Marco Bucci, Nadia Citroni, Maria Del Ben, Francesco Baratta, Massimo Federici, Martina Montagna, Claudio Ferri, Serena Notargiacomo, Anna Maria Fiorenza, Emanuela Colombo, Giuliana Fortunato, Maria Donata Di Taranto, Andrea Giaccari, Simona Moffa, Francesco Giorgino, Sergio Di Molfetta, Ornella Guardamagna, Luisa De Sanctis, Arcangelo Iannuzzi, Raimondo Cavallaro, Gabriella Iannuzzo, Marco Gentile, Lorenzo Iughetti, Patrizia Bruzzi, Salvatore Lia, Alessandro Lupi, Giuseppe Mandraffino, Arianna Toscano, Rossella Marcucci, Martina Berteotti, Lorenzo Maroni, Fabiana Locatelli, Tiziana Montalcini, Giuliana Mombelli, Sandro Muntoni, Davide Baldera, Gianfranco Parati, Angelina Passaro, Valerio Pecchioli, Cristina Pederiva, Giuseppe Banderali, Antonio Pipolo, Debora D'Elia, Matteo Pirro, Vanessa Bianconi, Livia Pisciotta, Elena Formisano, Francesco Purrello, Roberto Scicali, Elena Repetti, Elena Cantino, Elisabetta Rinaldi, Elena Sani, Riccardo Sarzani, Francesco Spannella, Francesco Sbrana, Beatrice Dal Pino, Patrizia Suppressa, Veronica Cocco, Chiara Trenti, Emanuele Alberto Negri, Josè Pablo Werba, Alessandra Romandini, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti, Giulia Fainelli, Fabio Pellegatta, Liliana Grigore, Katia Bonomo, Eleonora Capatti, Ada Cutolo, Fabio Fimiani, Simonetta Genovesi, Sandro Inchiostro, Chiara Pavanello, Roberta Pujia, Alon Schaffer, Olmastroni, Elena, Gazzotti, Marta, Averna, Maurizio, Arca, Marcello, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano, Catapano, Alberico L, Casula, Manuela, and Laura D'Erasmo, Angelo Baldassare Cefalu, Andrea Bartuli, Paola Sabrina Buonuomo, Andrea Benso, Guglielmo Beccuti, Giacomo Biasucci, Maria Elena Capra, Gianni Biolo, Pierandrea Vinci, Luca Bonanni, Claudio Borghi, Sergio D'Addato, Antonio Carlo Bossi, Giancarla Meregalli, Adriana Branchi, Paolo Calabrò, Francesca Carubbi, Fabio Nascimbeni, Francesco Cipollone, Marco Bucci, Nadia Citroni, Maria Del Ben, Francesco Baratta, Massimo Federici, Martina Montagna, Claudio Ferri, Serena Notargiacomo, Anna Maria Fiorenza, Emanuela Colombo, Giuliana Fortunato, Maria Donata Di Taranto, Andrea Giaccari, Simona Moffa, Francesco Giorgino, Sergio Di Molfetta, Ornella Guardamagna, Luisa De Sanctis, Arcangelo Iannuzzi, Raimondo Cavallaro, Gabriella Iannuzzo, Marco Gentile, Lorenzo Iughetti, Patrizia Bruzzi, Salvatore Lia, Alessandro Lupi, Giuseppe Mandraffino, Arianna Toscano, Rossella Marcucci, Martina Berteotti, Lorenzo Maroni, Fabiana Locatelli, Tiziana Montalcini, Giuliana Mombelli, Sandro Muntoni, Davide Baldera, Gianfranco Parati, Angelina Passaro, Valerio Pecchioli, Cristina Pederiva, Giuseppe Banderali, Antonio Pipolo, Debora D'Elia, Matteo Pirro, Vanessa Bianconi, Livia Pisciotta, Elena Formisano, Francesco Purrello, Roberto Scicali, Elena Repetti, Elena Cantino, Elisabetta Rinaldi, Elena Sani, Riccardo Sarzani, Francesco Spannella, Francesco Sbrana, Beatrice Dal Pino, Patrizia Suppressa, Veronica Cocco, Chiara Trenti, Emanuele Alberto Negri, Josè Pablo Werba, Alessandra Romandini, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti, Giulia Fainelli, Fabio Pellegatta, Liliana Grigore, Katia Bonomo, Eleonora Capatti, Ada Cutolo, Fabio Fimiani, Simonetta Genovesi, Sandro Inchiostro, Chiara Pavanello, Roberta Pujia, Alon Schaffer
- Subjects
cardiovascular risk ,lipoprotein(a) ,familial hypercholesterolemia - Abstract
Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M- and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M- also had lower mean levels of pretreatment low-density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M- and FH/M+ groups
- Published
- 2023
15. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group
- Author
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Pederiva, Cristina, primary, Gazzotti, Marta, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Banderali, Giuseppe, additional, Biasucci, Giacomo, additional, Brambilla, Marta, additional, Buonuomo, Paola, additional, Calabrò, Paolo, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, D’Addato, Sergio, additional, Del Ben, Maria, additional, Genovesi, Simonetta, additional, Guardamagna, Ornella, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Mandraffino, Giuseppe, additional, Maroni, Lorenzo, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Nascimbeni, Fabio, additional, Passaro, Angelina, additional, Pellegatta, Fabio, additional, Pirro, Matteo, additional, Pisciotta, Livia, additional, Pujia, Roberta, additional, Sarzani, Riccardo, additional, Scicali, Roberto, additional, Suppressa, Patrizia, additional, Zambon, Sabina, additional, Zenti, Maria, additional, Calandra, Sebastiano, additional, Catapano, Alberico, additional, Tarugi, Patrizia, additional, Galimberti, Federica, additional, Casula, Manuela, additional, and Capra, Maria, additional
- Published
- 2023
- Full Text
- View/download PDF
16. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
- Author
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Olmastroni, Elena, primary, Gazzotti, Marta, additional, Averna, Maurizio, additional, Arca, Marcello, additional, Tarugi, Patrizia, additional, Calandra, Sebastiano, additional, Bertolini, Stefano, additional, Catapano, Alberico L., additional, Casula, Manuela, additional, D’Erasmo, Laura, additional, Cefalù, Angelo Baldassare, additional, Bartuli, Andrea, additional, Buonuomo, Paola Sabrina, additional, Benso, Andrea, additional, Beccuti, Guglielmo, additional, Biasucci, Giacomo, additional, Capra, Maria Elena, additional, Biolo, Gianni, additional, Vinci, Pierandrea, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, D’Addato, Sergio, additional, Bossi, Antonio Carlo, additional, Meregalli, Giancarla, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Nascimbeni, Fabio, additional, Cipollone, Francesco, additional, Bucci, Marco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Baratta, Francesco, additional, Federici, Massimo, additional, Montagna, Martina, additional, Ferri, Claudio, additional, Notargiacomo, Serena, additional, Fiorenza, Anna Maria, additional, Colombo, Emanuela, additional, Fortunato, Giuliana, additional, Di Taranto, Maria Donata, additional, Giaccari, Andrea, additional, Moffa, Simona, additional, Giorgino, Francesco, additional, Di Molfetta, Sergio, additional, Guardamagna, Ornella, additional, De Sanctis, Luisa, additional, Iannuzzi, Arcangelo, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Gentile, Marco, additional, Iughetti, Lorenzo, additional, Bruzzi, Patrizia, additional, Lia, Salvatore, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Toscano, Arianna, additional, Marcucci, Rossella, additional, Berteotti, Martina, additional, Maroni, Lorenzo, additional, Locatelli, Fabiana, additional, Montalcini, Tiziana, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Baldera, Davide, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Banderali, Giuseppe, additional, Pipolo, Antonio, additional, D’Elia, Debora, additional, Pirro, Matteo, additional, Bianconi, Vanessa, additional, Pisciotta, Livia, additional, Formisano, Elena, additional, Purrello, Francesco, additional, Scicali, Roberto, additional, Repetti, Elena, additional, Cantino, Elena, additional, Rinaldi, Elisabetta, additional, Sani, Elena, additional, Sarzani, Riccardo, additional, Spannella, Francesco, additional, Sbrana, Francesco, additional, Dal Pino, Beatrice, additional, Suppressa, Patrizia, additional, Cocco, Veronica, additional, Trenti, Chiara, additional, Negri, Emanuele Alberto, additional, Werba, Josè Pablo, additional, Romandini, Alessandra, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, Zenti, Maria Grazia, additional, Fainelli, Giulia, additional, Pellegatta, Fabio, additional, Grigore, Liliana, additional, Bonomo, Katia, additional, Capatti, Eleonora, additional, Cutolo, Ada, additional, Fimiani, Fabio, additional, Genovesi, Simonetta, additional, Inchiostro, Sandro, additional, Pavanello, Chiara, additional, Pujia, Roberta, additional, Schaffer, Alon, additional, Catapano, Alberico Luigi, additional, Olmastroni, Elena, additional, and Galimberti, Federica, additional
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- 2023
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17. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group
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Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, Capra, Maria Elena, Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, and Capra, Maria Elena
- Abstract
Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3–4 months (29.2% and 23.3%) or 6–12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treat
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- 2023
18. Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network
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Catapano, Alberico L, Tokgözoglu, Lale, Banach, Maciej, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, Ray, Kausik K, Catapano, Alberico L, Tokgözoglu, Lale, Banach, Maciej, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, and Ray, Kausik K
- Abstract
Background and aims: The European Atherosclerosis Society (EAS) Lipid Clinics Network promoted a survey in order to identify and understand how and when lipoprotein(a) [Lp(a)] is tested and clinically evaluated in lipid clinics throughout Europe, and the challenges that may prevent evaluation from being carried out. Methods: This survey was divided into three areas of inquiry: background and clinical setting information of clinicians, questions for doctors who claimed not to measure Lp(a), in order to understand what were the reasons for not ordering the test, and questions for doctors who measure Lp(a), to investigate the use of this value in the management of patients. Results: A total of 151 centres clinicians filled in the survey, out of 226 invited. The proportion of clinicians who declare to routinely measure Lp(a) in clinical practice was 75.5%. The most common reasons for not ordering the Lp(a) test were the lack of reimbursement or of treatment options, the non-availability of Lp(a) test, and the high cost of performing the laboratory test. The availability of therapies targeting this lipoprotein would result in a greater propensity of clinicians to start testing Lp(a). Among those who declared to routinely measure Lp(a), the Lp(a) measurement is mostly requested to further stratify patients’ cardiovascular risk, and half of them recognized 50 mg/dL (approx. 110 nmol/L) as the threshold for increased cardiovascular risk due. Conclusions: These results warrant for a great deal of effort from scientific societies to address the barriers that limit the routine use of the measurement of Lp(a) concentration and to recognise the importance of Lp(a) as a risk factor.
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- 2023
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19. Corrigendum: The role of registers in increasing knowledge and improving management of children and adolescents affected by familial hypercholesterolemia: The LIPIGEN pediatric group
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Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, and Pederiva, Cristina
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Genetics ,Molecular Medicine ,Genetics (clinical) - Published
- 2023
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20. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
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Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, Pederiva, Cristina, and the LIPIGEN Pediatric Group: Massimiliano Allevi, Internal Medicine and Geriatrics, Department of Clinical and Molecular Sciences, University 'Politecnica delle Marche' and IRCCS-INRCA, Ancona, Italy, Marcello, Arca, Dipartimento di Medicina Traslazionale, e di Precisione, O Policlinico Umberto I, Sapienza Università di Roma—A. U., Rome, Italy, Renata, Auricchio, Dipartimento di Scienze Mediche Traslazionali, AOU Policlinico Federico II, Naples, Italy, Averna, Maurizio, Dipartimento di Promozione della Salute, Materno-Infantile, di Medicina Interna, e Specialistica di Eccellenza, Università degli Studi di Palermo, Palermo, Italy, Davide, Baldera, Dipartimento di Scienze Biomediche, Università degli Studi di Cagliari and Centro per le Malattie Dismetaboliche, e l’Arteriosclerosi, Onlus Cagliari, Associazione ME. DI. CO., Cagliari, Italy, Giuseppe, Banderali, Clinica Pediatrica, U. O., Servizio Clinico Dislipidemie per lo Studio, e la Prevenzione dell’Aterosclerosi in età Pediatrica, ASSTSanti Paolo, e Carlo, Milan, Italy, Andrea, Bartuli, UOC Malattie Rare, e Genetica Medica, Ospedale Pediatrico Bambino Gesù, Irccs, Rome, Italy, Stefano, Bertolini, Department of Internal Medicine, University of Genova, Genova, Italy, Giacomo, Biasucci, Centro Dislipidemie in Età Evolutiva, Pediatria e Neonatologia, U. O., Ospedale Guglielmo da Saliceto, Piacenza, Italy, Claudio, Borghi, di Medicina Interna Cardiovascolare, U. O., Centro, Aterosclerosi, Ambulatorio, Dislipidemie, Orsola-Malpighi, IRCCS S. Orsola Ospedale Policlinico S., Bologna, Italy, Patrizia, Bruzzi, Pediatria, U. O. C., Azienda Ospedaliero Universitaria di Modena, Modena, Italy, Raffaele, Buganza, Paediatric, Endocrinology, Department of Public Health and Paediatric Sciences, Turin, University, Turin, Italy, Paola Sabrina Buonuomo, Paolo, Calabrò, U. O. C. Cardiologia Clinica a Direzione Universitaria e U. T. I. C., 'Sant’Anna e San Sebastiano', A. O. R. N., Italy and Dipartimento di Scienze Mediche Traslazionali, Università degli Studi della Campania, Sebastiano, Calandra, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Maria Elena Capra, Francesca, Carubbi, Medicina interna metabolica, U. O., Centro dislipidemie, e malattie metaboliche rare, Ospedale Civile Baggiovara, AOU di Modena, Manuela, Casula, Dipartimento di Scienze Farmacologiche, e Biomolecolari, Università degli Studi di Milano, and IRCCS MultiMedica, Sesto San Giovanni (Milan), Alberico Luigi Catapano, Arturo, Cesaro, Università degli Studi della Campania 'Luigi Vanvitelli', Francesco, Cipollone, Clinica, Medica, Centro di riferimento regionale per le Dislipidemie, Annunziata, Ospedale Policlinico S. S., Chieti, Italy, Nadia, Citroni, Centro Dislipidemie, e Aterosclerosi, UOC Medicina Interna, Ospedale di Trento, Trento, Italy, Giuseppe, Covetti, Medicina Interna 2, U. O., Centro per le malattie da arteriosclerosi, Aorn, Cardarelli, Annalaura, Cremonini, IRCCS Ospedale policlinico San Martino UOSD Dietetica, e Nutrizione Clinica and Dipartimento di Medicina Interna, Università di Genova, Sergio, D’Addato, Maria Del Ben, Dipartimento Scienze Cliniche, Internistiche, Anestesiologiche e Cardiovascolari, - Sapienza Università, Policlinico Umberto I, A. O., Maria Donata Di Taranto, Dipartimento di Medicina Molecolare, e Biotecnologie Mediche, Università degli studi di Napoli Federico II and CEINGE Biotecnologie Avanzate, s. c. a. r. l., Giuliana, Fortunato, Roberto, Franceschi, Uoc, Pediatria, Federica, Galimberti, Irccs, Multimedica, Marta, Gazzotti, Fondazione SISA (Società Italiana per lo Studio dell’Aterosclerosi), Simonetta, Genovesi, IRCCS Istituto Auxologico Italiano and Dipartimento di Medicina, e Chirurgia, Università di Milano- Bicocca, Antonina, Giammanco, Liliana, Grigore, Centro per lo Studio dell’Aterosclerosi, Italy and Centro per lo Studio dell’Aterosclerosi, Bassini, Ospedale E., Cinisello, Balsamo, Ornella, Guardamagna, Arcangelo, Iannuzzi, Gabriella, Iannuzzo, Dipartimento di Medicina Clinica, e Chirurgia, Centro Coordinamento regionale per le Iperlipidemie, Lidia Lascala, AOU Mater Domini, Fabiana, Locatelli, Ambulatorio ipertensione dislipidemie rischio cardiovascolare, ASST Valle Olona, Ospedale di Gallarate, Gallarate, Italy, Ospedale di Busto Arsizio, Busto, Arsizio, Lorenzo, Iughetti, Sara, Madaghiele, Frugoni' and Centro di Assistenza e Ricerca Malattie Rare, U. O. di Medicina Interna e Geriatria 'C., Universitaria Policlinico Consorziale, A. O., Università degli Studi di Bari 'Aldo Moro', Bari, Italy, Giuseppe, Mandraffino, Martino, Department of Clinical and Experimental Medicine—Lipid Center—University Hospital G., Messina, Italy, Massimo Raffaele Mannarino, Internal, Medicine, University of Perugia, Angiology and Arteriosclerosis Diseases. Department of Medicine and Surgery., Perugia, Italy, Bucci, Marco, Lorenzo, Maroni, Ilenia, Minicocci, Giuliana, Mombelli, Centro Dislipidemie ASST Grande Ospedale Metropolitano Niguarda, Sandro, Muntoni, Fabio, Nascimbeni, Elena, Olmastroni, Servizio di Epidemiologia, e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche, e Biomolecolari, Gianfranco, Parati, Università di Milano-Bicocca, Angelina, Passaro, Department of Translational Medicine, University of Ferrara, Italy and Research and Innovation Section, University Hospital of Ferrara Arcispedale Sant’Anna, Chiara, Pavanello, Milan, Italy and Centro Grossi Paoletti, Milano, Italy, Cristina, Pederiva, ASST-Santi Paolo, e Carlo, Fabio, Pellegatta, Francesco Massimo Perla, Dipartimento Materno Infantile, e Scienze Urologiche—Sapienza Università, Medicina, Generale, Ospedale di Trecenta, Trecenta, Rovigo, Matteo, Pirro, Livia, Pisciotta, Arturo, Pujia, Mater Domini, A. O. U., UOC di Nutrizione Clinica, Purrello, Francesco, Department of Clinical and Experimental Medicine, University of Catania, Ospedale, Garibaldi, Catania, Italy, Elisabetta, Rinaldi, Endocrinologia, U. O., Diabetologia, e Malattie del Metabolismo, Universitaria Integrata di Verona, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica and A. O., Verona, Italy, Riccardo, Sarzani, Scicali, Roberto, Patrizia, Suppressa, Patrizia, Tarugi, Department of Life Sciences, Sabrina, Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Ambulatorio Prevenzione Aterosclerosi, U. O., IRCCS Centro Cardiologico Monzino, Alberto, Zambon, Dipartimento di Medicina, Università di Padova, Padua, Italy, Sabina, Zambon, Maria Grazia Zenti, Servizio di Diabetologia, e Malattie Metaboliche, Pederzoli, Ospedale P., Peschiera del Garda, and Verona, Italy.
- Subjects
genetic diagnosis ,clinical diagnosis ,familial hypercholesterolemia ,cardiovascular genetics ,pathology register ,pediatric cohort ,Settore BIO/14 - Farmacologia ,Genetics ,Molecular Medicine ,Genetics (clinical) - Abstract
Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details.
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- 2022
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21. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.
- Author
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Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, and Pederiva, Cristina
- Subjects
FAMILIAL hypercholesterolemia ,GENETIC disorder diagnosis ,TEENAGERS ,LDL cholesterol ,GENETIC testing - Abstract
Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details. [ABSTRACT FROM AUTHOR]
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- 2023
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22. Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
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Olmastroni, Elena, primary, Gazzotti, Marta, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Casula, Manuela, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Bartuli, Andrea, additional, Benso, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Antonio, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Sabbà, Carlo, additional, Sarzani, Riccardo, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Di Costanzo, Alessia, additional, Fortunato, Giuliana, additional, Spina, Rossella, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Baratta, Francesco, additional, Beccuti, Guglielmo, additional, Bertocco, Sandra, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Angelo Baldassarre, additional, Cinquegrani, Maria, additional, Colombo, Emanuela, additional, Covetti, Giuseppe, additional, Cremonini, Anna Laura, additional, Cutolo, Ada, additional, D’Addato, Sergio, additional, D’Ambrosio, Vincenzo, additional, De Corrado, Giuseppe, additional, Di Pentima, Chiara, additional, Fimiani, Fabio, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Giusti, Betti, additional, Grassi, Davide, additional, Grigore, Liliana, additional, Massini, Giulia, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Pavanello, Chiara, additional, Prati, Lucia, additional, Roscini, Anna Rita, additional, Sani, Elena, additional, Schaffer, Alon, additional, Scicali, Roberto, additional, Suppressa, Patrizia, additional, Tedeschi, Michele, additional, Vinci, Pierandrea, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional
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- 2022
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23. Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
- Author
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Olmastroni, Elena, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Pirillo, Angela, Catapano Alberico Luigi, Casula, Manuela, Members of the Lipigen Study Group, and Benso, Andrea
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familial hypercholesterolemia ,molecular diagnosis ,polygenic risk score - Published
- 2022
24. Statin use and risk of dementia or Alzheimer’s disease: a systematic review and meta-analysis of observational studies
- Author
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Olmastroni, Elena, primary, Molari, Giulia, additional, De Beni, Noemi, additional, Colpani, Ornella, additional, Galimberti, Federica, additional, Gazzotti, Marta, additional, Zambon, Alberto, additional, Catapano, Alberico L, additional, and Casula, Manuela, additional
- Published
- 2021
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25. Achilles tendon ultrasonography in familial hypercholesterolemia: A sub‐study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN)
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Baragetti, Andrea, Casula, Manuela, Scarinzi, Paolo, Ristè, Federica, Scicali, Roberto, Biolo, Marta, Lugari, Simonetta, Dall'Agata, Marco, Gazzotti, Marta, Olmastroni, Elena, Alieva, Asiiat S., and Nascimbeni, Fabio
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Hyperlipoproteinemia Type II ,Internal Medicine ,Humans ,Gene Regulatory Networks ,Achilles Tendon ,Lipids ,Ultrasonography - Published
- 2021
26. How registers could enhance knowledge and characterization of genetic dyslipidaemias: The experience of the LIPIGEN in Italy and of other networks for familial hypercholesterolemia
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Gazzotti, Marta, primary, Casula, Manuela, additional, Olmastroni, Elena, additional, Averna, Maurizio, additional, Arca, Marcello, additional, and Catapano, Alberico L., additional
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- 2020
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27. Statin use and risk of dementia or Alzheimer's disease: a systematic review and meta-analysis of observational studies.
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Olmastroni, Elena, Molari, Giulia, Beni, Noemi De, Colpani, Ornella, Galimberti, Federica, Gazzotti, Marta, Zambon, Alberto, Catapano, Alberico L, and Casula, Manuela
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- 2022
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28. Omega-3 polyunsaturated fatty acids supplementation and cardiovascular outcomes: do formulation, dosage, and baseline cardiovascular risk matter? An updated meta-analysis of randomized controlled trials
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Casula, Manuela, primary, Olmastroni, Elena, additional, Gazzotti, Marta, additional, Galimberti, Federica, additional, Zambon, Alberto, additional, and Catapano, Alberico L., additional
- Published
- 2020
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29. 03 - PREVALENCE OF STATIN-ASSOCIATED MUSCLE SYMPTOMS IN ITALY: THE PROSISA STUDY
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Gazzotti, Marta, primary, Casula, Manuela, primary, Olmastroni, Elena, primary, Bonaiti, Federica, primary, and Grigore, Liliana, primary
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- 2019
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30. Achilles tendon ultrasonography in familial hypercholesterolemia: A sub‐study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN).
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Baragetti, Andrea, Casula, Manuela, Scarinzi, Paolo, Ristè, Federica, Scicali, Roberto, Biolo, Marta, Lugari, Simonetta, Dall'Agata, Marco, Gazzotti, Marta, Olmastroni, Elena, Alieva, Asiiat S., and Nascimbeni, Fabio
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ACHILLES tendon ,GENETIC disorders ,FAMILIAL hypercholesterolemia ,ULTRASONIC imaging ,ACHILLES tendon rupture ,HETEROZYGOUS familial hypercholesterolemia ,DIAGNOSTIC ultrasonic imaging - Abstract
Keywords: achilles tendon xanthomata; familial hypercholesterolemia EN achilles tendon xanthomata familial hypercholesterolemia 702 704 3 04/15/22 20220501 NES 220501 Dear Editor, Familial hypercholesterolemia (FH) is a common genetic disease due to mutations causing lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C) levels, a causal factor for premature occurrence of atherosclerotic cardiovascular disease (ASCVD) [1, 2]. However, the measurement of Achilles tendon thickness demonstrated poor sensitivity both for identifying subjects with clinically defined FH as well as subjects with genetic confirmation of the FH phenotype (Table S3; Figure S2, panels A and B). Therefore, ultrasonography represents an additional opportunity for the physician to detect FH patients when the genetic test is not available, since the prevalence of xanthomata only detected by ultrasound was significantly higher in FH/M+ versus FH/M-, even stratifying for LDL-C levels (not shown). [Extracted from the article]
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- 2022
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31. Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study
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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, VU University medical center, Tromp T.R., Hartgers M.L., Hovingh G.K., Vallejo-Vaz A.J., Ray K.K., Soran H., Freiberger T., Bertolini S., Harada-Shiba M., Blom D.J., Raal F.J., Cuchel M., Bertolini S.A., Pang J., Watts G.F., Greber-Platzer S., Maser M., Stulnig T.M., Ebenbichler C.F., Bin Thani K., Cassiman D., Descamps O.S., Rymen D., Witters P., Santos R.D., Brunham L.R., Francis G.A., Genest J., Hegele R.A., Kennedy B.A., Ruel I., Sherman M.H., Jiang L., Wang L., Reiner Z., Blaha V., Ceska R., Dvorakova J., Dlouhy L., Horak P., Soska V., Tichy L., Urbanek R., Vaverkova H., Vrablik M., Zemek S., Zlatohlavek L., Emil S., Naguib T., Reda A., Beliard S., Bruckert E., Gallo A., Elisaf M.S., Kolovou G., Cohen H., Durst R., Dann E.J., Elis A., Hussein O., Leitersdorf E., Schurr D., Setia N., Verma I.C., Alareedh M.D., Al-Khnifsawi M., Abdalsahib Al-Zamili A.F., Rhadi S.H., Shaghee F.K., Arca M., Averna M., Bartuli A., Bucci M., Buonuomo P.S., Calabro P., Calandra S., Casula M., Catapano A.L., Cefalu A.B., Cicero A.F.G., D'Addato S., D'Erasmo L., Di Costanzo A., Fasano T., Gazzotti M., Giammanco A., Iannuzzo G., Ibba A., Negri E.A., Pasta A., Pavanello C., Pisciotta L., Rabacchi C., Ripoli C., Sampietro T., Sbrana F., Sileo F., Suppressa P., Tarugi P., Trenti C., Zenti M.G., Hori M., Ayesh M.H., Azar S.T., Bitar F.F., Fahed A.C., Moubarak E.M., Nemer G., Nawawi H.M., Madriz R., Mehta R., Cupido A.J., Defesche J.C., Reijman M.D., Roeters-van Lennep J.E., Stroes E.S.G., Wiegman A., Zuurbier L., Al-Waili K., Sadiq F., Chlebus K., Bourbon M., Gaspar I.M., Lalic K.S., Ezhov M.V., Susekov A.V., Groselj U., Charng M.-J., Khovidhunkit W., Aktan M., Altunkeser B.B., Demircioglu S., Kose M., Gokce C., Ilhan O., Kayikcioglu M., Kaynar L.G., Kuku I., Kurtoglu E., Okutan H., Ozcebe O.I., Pekkolay Z., Sag S., Salcioglu O.Z., Temizhan A., Yenercag M., Yilmaz M., Yilmaz Yasar H., Mitchenko O., Lyons A.R.M., Stevens C.A.T., Brothers J.A., Hudgins L.C., Nguyen C., Alieva R., Shek A., Do D.-L., Kim N.-T., Le H.-A., Le T.-T., Nguyen M.-N.T., Truong T.-H., University of Amsterdam, University of Pennsylvania, European Atherosclerosis Society, Experimental Vascular Medicine, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, R Tromp, Tycho, L Hartgers, Merel, Kees Hovingh, G, J Vallejo-Vaz, Antonio, K Ray, Kausik, Soran, Handrean, Freiberger, Toma, A Bertolini, Stefano, Harada-Shiba, Mariko, Pang, Jing, F Watts, Gerald, Greber-Platzer, Susanne, Mäser, Martin, M Stulnig, Thoma, F Ebenbichler, Christoph, Bin Thani, Khalid, Cassiman, David, S Descamps, Olivier, Rymen, Daisy, Witters, Peter, D Santos, Raul, R Brunham, Liam, A Francis, Gordon, Genest, Jacque, A Hegele, Robert, A Kennedy, Brooke, Ruel, Isabelle, H Sherman, Mark, Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Luka, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Luka, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, S Elisaf, Mose, Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, J Dann, Eldad, Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, C Verma, Ishwar, D Alareedh, Mohammed, Al-Khnifsawi, Mutaz, F Abdalsahib Al-Zamili, Ali, H Rhadi, Sabah, K Shaghee, Foaad, Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, S Buonuomo, Paola, Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, L Catapano, Alberico, B Cefalù, Angelo, G Cicero, Arrigo F, D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, A Negri, Emanuele, Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, G Zenti, Maria, Hori, Mika, H Ayesh, Mahmoud, T Azar, Sami, F Bitar, Fadi, C Fahed, Akl, M Moubarak, Elie, Nemer, George, M Nawawi, Hapizah, Madriz, Ramón, Mehta, Roopa, J Cupido, Arjen, C Defesche, Joep, Doortje Reijman, M, E Roeters-van Lennep, Jeanine, G Stroes, Erik S, Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, M Gaspar, Isabel, S Lalic, Katarina, V Ezhov, Marat, V Susekov, Andrey, Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, B Altunkeser, Bulent, Demircioglu, Sinan, Kose, Meli, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, G Kaynar, Leyla, Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, I Ozcebe, Osman, Pekkolay, Zafer, Sag, Saim, Z Salcioglu, Osman, Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, M Lyons, Alexander R, T Stevens, Christophe A, A Brothers, Julie, C Hudgins, Lisa, Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, T Nguyen, Mai-Ngoc, Truong, Thanh-Huong, J Blom, Dirk, J Raal, Frederick, and Cuchel, Marina
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Adult ,Male ,Homozygous Familial Hypercholesterolemia ,Adolescent ,retrospective study ,CHILDREN ,Doenças Cardio e Cérebro-vasculares ,Cohort Studies ,Young Adult ,Medicine, General & Internal ,General & Internal Medicine ,Cardiovascular Disease ,Humans ,Registries ,LIPOPROTEIN-APHERESIS ,Child ,11 Medical and Health Sciences ,Retrospective Studies ,Homozygous Familial Hypercholesterolaemia International Clinical Collaborators ,Science & Technology ,GUIDANCE ,clinical characteristic ,EVOLOCUMAB ,Homozygous familial hypercholesterolemia ,Worldwide ,Therapies ,Cardiovascular disease ,General Medicine ,CARE ,OPEN-LABEL ,EFFICACY ,INSIGHTS ,Child, Preschool ,outcome ,Female ,genetic ,Familial Hypercholesterolaemia ,Life Sciences & Biomedicine - Abstract
[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 about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally., [Methods]: The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005., [Findings]: Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12∙0 years (IQR 5∙5–27∙0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 (64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14∙7 mmol/L (IQR 11∙6–18∙4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3∙93 mmol/L, IQR 2∙6–5∙8) versus non-highincome countries (9∙3 mmol/L, 6∙7–12∙7), with greater use of three or more lipid-lowering therapies (LLT; highincome 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high-income 21% vs non-high-income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24∙5 years (IQR 17∙0–34∙5) versus 37∙0 years (29∙0–49∙0) in high-income countries (adjusted hazard ratio 1∙64, 95% CI 1∙13–2∙38)., [Interpretation]: Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH., Amsterdam University Medical Centers, Location Academic Medical Center; Perelman School of Medicine at the University of Pennsylvania; and European Atherosclerosis Society
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- 2022
32. Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
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Olmastroni, E., Gazzotti, M., Arca, M., Averna, M., Pirillo, A., Catapano, A. L., Casula, M., Marcello, A., Maurizio, A., Stefano, B., Sebastiano, C., Luigi, C. A., Patrizia, T., Fabio, P., Andrea, B., Giacomo, B., Gianni, B., Luca, B., Katia, B., Claudio, B., Carlo, B. A., Adriana, B., Paolo, C., Francesca, C., Francesco, C., Nadia, C., Maria, D. B., Massimo, F., Claudio, F., Maria, F. A., Andrea, G., Ornella, G., Arcangelo, I., Gabriella, I., Lorenzo, I., Graziana, L., Alessandro, L., Giuseppe, M., Rossella, M., Lorenzo, M., Giuliana, M., Sandro, M., Valerio, P., Cristina, P., Antonio, P., Livia, P., Arturo, P., Francesco, P., Elena, R., Carlo, S., Riccardo, S., Chiara, T., Battista, V. G., Pablo, W. J., Sabina, Z., Grazia, Z. M., Alessia, D. C., Giuliana, F., Rossella, S., Davide, B., Giuseppe, B., Francesco, B., Guglielmo, B., Sandra, B., Patrizia, B., Marco, B., Sabrina, B. P., Elena, C. M., Iris, C., Baldassarre, C. A., Maria, C., Emanuela, C., Giuseppe, C., Laura, C. A., Ada, C., Sergio, D., Vincenzo, D., Giuseppe, D. C., Chiara, D. P., Fabio, F., Marco, G., Omar, G., Betti, G., Davide, G., Liliana, G., Giulia, M., Giancarla, M., Ilenia, M., Simona, M., Tiziana, M., Fabio, N., Alberto, N. E., Chiara, P., Lucia, P., Rita, R. A., Elena, S., Alon, S., Roberto, S., Patrizia, S., Michele, T., Pierandrea, V., Manuela, C., Enzo, M., Elena, T., Veronic, Z., Olmastroni, Elena, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Pirillo, Angela, Catapano, Alberico Luigi, Casula, Manuela, Stefano, Bertolini, Sebastiano, Calandra, Patrizia, Tarugi, Fabio, Pellegatta, Andrea, Bartuli, Andrea, Benso, Giacomo, Biasucci, Gianni, Biolo, Luca, Bonanni, Katia, Bonomo, Claudio, Borghi, Antonio Carlo Bossi, Adriana, Branchi, Paolo, Calabrò, Francesca, Carubbi, Francesco, Cipollone, Nadia, Citroni, Maria Del Ben, Massimo, Federici, Claudio, Ferri, Anna Maria Fiorenza, Andrea, Giaccari, Ornella, Guardamagna, Arcangelo, Iannuzzi, Iannuzzo, Gabriella, Lorenzo, Iughetti, Graziana, Lupattelli, Alessandro, Lupi, Giuseppe, Mandraffino, Rossella, Marcucci, Lorenzo, Maroni, Giuliana, Mombelli, Sandro, Muntoni, Valerio, Pecchioli, Cristina, Pederiva, Antonio, Pipolo, Livia, Pisciotta, Antonio, Pujia, Francesco, Purrello, Elena, Repetti, Carlo, Sabbà, Riccardo, Sarzani, Chiara, Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina, Zambon, Maria Grazia Zenti, Alessia Di Costanzo, Fortunato, Giuliana, Rossella, Spina, Davide, Baldera, Giuseppe, Banderali, Francesco, Baratta, Guglielmo, Beccuti, Sandra, Bertocco, Patrizia, Bruzzi, Marco, Bucci, Paola Sabrina Buonuomo, Maria Elena Capra, Iris, Cardolini, Angelo Baldassarre Cefalù, Maria, Cinquegrani, Emanuela, Colombo, Giuseppe, Covetti, Anna Laura Cremonini, Ada, Cutolo, Sergio, D'Addato, Vincenzo, D'Ambrosio, Giuseppe De Corrado, Chiara Di Pentima, Fabio, Fimiani, Gentile, Marco, Omar, Ghirardello, Betti, Giusti, Davide, Grassi, Liliana, Grigore, Giulia, Massini, Giancarla, Meregalli, Ilenia, Minicocci, Simona, Moffa, Tiziana, Montalcini, Fabio, Nascimbeni, Emanuele Alberto Negri, Chiara, Pavanello, Lucia, Prati, Anna Rita Roscini, Elena, Sani, Alon, Schaffer, Roberto, Scicali, Patrizia, Suppressa, Michele, Tedeschi, Pierandrea, Vinci, Enzo, Manzato, Elena, Tragni, Veronica, Zampoler, and Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia, Pellegatta Fabio, Bartuli Andrea, Benso Andrea, Biasucci Giacomo, Biolo Gianni, Bonanni Luca, Bonomo Katia, Borghi Claudio, Bossi Antonio Carlo, Branchi Adriana, Calabrò Paolo, Carubbi Francesca, Cipollone Francesco, Citroni Nadia, Del Ben Maria, Federici Massimo, Ferri Claudio, Fiorenza Anna Maria, Giaccari Andrea, Guardamagna Ornella, Iannuzzi Arcangelo, Iannuzzo Gabriella, Iughetti Lorenzo, Lupattelli Graziana, Lupi Alessandro, Mandraffino Giuseppe, Marcucci Rossella, Maroni Lorenzo, Mombelli Giuliana, Muntoni Sandro, Pecchioli Valerio, Pederiva Cristina, Pipolo Antonio, Pisciotta Livia, Pujia Arturo, Purrello Francesco, Repetti Elena, Sabbà Carlo, Sarzani Riccardo, Trenti Chiara, Vigna Giovanni Battista, Werba Josè Pablo, Zambon Sabina, Zenti Maria Grazia. Di Costanzo Alessia, Fortunato Giuliana, Spina Rossella, Baldera Davide, Banderali Giuseppe, Baratta Francesco, Beccuti Guglielmo, Bertocco Sandra, Bruzzi Patrizia, Bucci Marco, Buonuomo Paola Sabrina, Capra Maria Elena, Cardolini Iris, Cefalù Angelo Baldassare, Cinquegrani Maria, Colombo Emanuela, Covetti Giuseppe, Cremonini Anna Laura, Cutolo Ada, D’Addato Sergio, D’Ambrosio Vincenzo, De Corrado Giuseppe, Di Pentima Chiara, Fimiani Fabio, Gentile Marco, Ghirardello Omar, Giusti Betti, Grassi Davide, Grigore Liliana, Massini Giulia, Meregalli Giancarla, Minicocci Ilenia, Moffa Simona, Montalcini Tiziana, Nascimbeni Fabio, Negri Emanuele Alberto, Pavanello Chiara, Prati Lucia, Roscini Anna Rita, Sani Elena, Schaffer Alon, Scicali Roberto, Suppressa Patrizia, Tedeschi Michele, Vinci Pierandrea, Manzato Enzo, Tragni Elena, Zampoleri Veronica
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Male ,Adult ,Multifactorial Inheritance ,Settore MED/09 - Medicina Interna ,familial hypercholesterolemia ,molecular diagnosis ,polygenic risk score ,Cholesterol, LDL ,Female ,Humans ,Middle Aged ,Mutation ,Gene Regulatory Networks ,Hyperlipoproteinemia Type II ,LDL ,Cholesterol ,molecular diagnosi - Abstract
Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P
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- 2022
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