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7. Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)

Author

Bashir, Bilal, Kwok, See, Wierzbicki, Anthony S., Jones, Alan, Dawson, Charlotte, Downie, Paul, Jenkinson, Fiona, Delaney, Hannah, Mansfield, Michael, Datta, Dev, Teoh, Yee, Hamilton, Paul, Forrester, Natalie, O'Sullivan, Dawn, Ferdousi, Maryam, Durrington, Paul N., AbdelRazik, Alaa, Gallo, Antonio, Moulin, Philippe, and Soran, Handrean

Published
2024
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8. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

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.

Published
2024
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14. A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia

Author

Vanhoye, Xavier, Bardel, Claire, Rimbert, Antoine, Moulin, Philippe, Rollat-Farnier, Pierre-Antoine, Muntaner, Manon, Marmontel, Oriane, Dumont, Sabrina, Charrière, Sybil, Cornélis, François, Ducluzeau, Pierre Henri, Fonteille, Annie, Nobecourt, Estelle, Peretti, Noël, Schillo, Franck, Wargny, Matthieu, Cariou, Bertrand, Meirhaeghe, Aline, and Di Filippo, Mathilde

Published
2023
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16. WED-194 Diagnostic performance of non-invasive tests and comparison of AGA and EASL algorithm for the screening of MASLD-related advanced fibrosis in diabetes and nutrition clinics

Author

Caussy, Cyrielle, primary, Vergès, Bruno, additional, Damien, Leleu, additional, Laurence, Duvillard, additional, Amna, Abichou-Klich, additional, Hervieu, Valerie, additional, Ségrestin, Bérénice, additional, Sylvie, Bin, additional, Alexia, Rouland, additional, Delaunay, Dominique, additional, Samy, Hadjadj, additional, Claire, Primot, additional, Petit, Jean-Michel, additional, Charrière, Sybil, additional, Moulin, Philippe, additional, Levrero, Massimo, additional, Cariou, Bertrand, additional, and Disse, Emmanuel, additional

Published
2024
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19. Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia

Author

Angoulvant, Denis, Aouchiche, Karine, Beliard, Sophie, Boccara, Franck, Bruckert, Eric, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di Filippo, Mathilde, Dourmap, Caroline, Ducluzeau, Pierre-Henri, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, Hankard, Regis, Inamo, Jocelyn, Kalmykova, Olga, Krempf, Michel, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnes, Pradignac, Alain, Pucheu, Yann, Rabes, Jean Pierre, Reynaud, Rachel, Rigalleau, Vincent, Schiele, François, Sultan, Ariane, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cecile, Ziegler, Olivier, Ferrières, Jean, Vimont, Alexandre, Ferrières, Dorota, and Béliard, Sophie

Published
2022
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21. Guidance for the diagnosis and treatment of hypolipidemia disorders

Author

Bredefeld, Cindy, Hussain, M. Mahmood, Averna, Maurizio, Black, Dennis D., Brin, Mitchell F., Burnett, John R., Charrière, Sybil, Cuerq, Charlotte, Davidson, Nicholas O., Deckelbaum, Richard J., Goldberg, Ira J., Granot, Esther, Hegele, Robert A., Ishibashi, Shun, Karmally, Wahida, Levy, Emile, Moulin, Philippe, Okazaki, Hiroaki, Poinsot, Pierre, Rader, Daniel J., Takahashi, Manabu, Tarugi, Patrizia, Traber, Maret G., Di Filippo, Mathilde, and Peretti, Noel

Published
2022
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24. Efficiency of Hybrid Process of Coagulation/Flocculation Followed by Membrane Filtration for the Treatment of Synthetic Vegetable Oil Refinery Wastewater

Author

Louhichi, Ghofrane, Moulin, Philippe, Ghrabi, Ahmed, Khouni, Imen, Förstner, Ulrich, Series Editor, Rulkens, Wim H., Series Editor, Salomons, Wim, Series Editor, Ksibi, Mohamed, editor, Ghorbal, Achraf, editor, Chakraborty, Sudip, editor, Chaminé, Helder I., editor, Barbieri, Maurizio, editor, Guerriero, Giulia, editor, Hentati, Olfa, editor, Negm, Abdelazim, editor, Lehmann, Anthony, editor, Römbke, Jörg, editor, Costa Duarte, Armando, editor, Xoplaki, Elena, editor, Khélifi, Nabil, editor, Colinet, Gilles, editor, Miguel Dias, João, editor, Gargouri, Imed, editor, Van Hullebusch, Eric D., editor, Sánchez Cabrero, Benigno, editor, Ferlisi, Settimio, editor, Tizaoui, Chedly, editor, Kallel, Amjad, editor, Rtimi, Sami, editor, Panda, Sandeep, editor, Michaud, Philippe, editor, Sahu, Jaya Narayana, editor, Seffen, Mongi, editor, and Naddeo, Vincenzo, editor

Published
2021
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25. The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Author

Angoulvant, Denis, Beliard, Sophie, Boccara, Franck, Bruckert, Eric, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di Filippo, Mathilde, Ducluzeau, Pierre Henri, Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, Giral, Philippe, Gonbert, Sophie, Hankard, Regis, Inamo, Jocelyn, Kalmykova, Olga, Krempf, Michel, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnes, Pradignac, Alain, Rabes, Jean Pierre, Rigalleau, Vincent, Schiele, François, Sultan, Ariane, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cecile, Ziegler, Olivier, Aguado, Rocío, Alonso, Rodrigo, Álvarez-Baños, M<ce:sup loc='post">a</ce:sup> Pilar, Argüeso, Rosa, Arrieta, Francisco, Barba, Miguel Ángel, Casañas, Marta, Cepeda, José María, De Andrés, Raimundo, Díaz-Soto, Gonzalo, Díaz-Diaz, Jose Luis, Dieguez, Marta, Faedo, Ceferino, Fuentes, Francisco, Garrido, Juan A., González, Aurora, González-Bustos, Pablo, Mañas, M<ce:sup loc='post">a</ce:sup> Dolores, Mata, Pedro, Mauri, Marta, Mediavilla, Juan Diego, Michán, Alfredo, Miramontes, Pablo, Muñiz, Ovidio, Pérez, Leire, De Isla, Leopoldo Perez, Pintó, Xavier, Romero, Manuel J., Rubio, Patricia, Sánchez Muñoz-Torrero, Juan F., Vidal-Pardo, Jose I., Zambón, Daniel, Pérez de Isla, Leopoldo, Charrière, Sybil, Vimont, Alexandre, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, José L., and Béliard, Sophie

Published
2021
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27. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Author

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.

Published
2021
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30. Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia

Author

Beigneux, Anne P, Miyashita, Kazuya, Ploug, Michael, Blom, Dirk J, Ai, Masumi, Linton, MacRae F, Khovidhunkit, Weerapan, Dufour, Robert, Garg, Abhimanyu, McMahon, Maureen A, Pullinger, Clive R, Sandoval, Norma P, Hu, Xuchen, Allan, Christopher M, Larsson, Mikael, Machida, Tetsuo, Murakami, Masami, Reue, Karen, Tontonoz, Peter, Goldberg, Ira J, Moulin, Philippe, Charrière, Sybil, Fong, Loren G, Nakajima, Katsuyuki, and Young, Stephen G

Subjects
Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Adult, Autoantibodies, Female, Humans, Hyperlipoproteinemia Type I, Immunoassay, Lipolysis, Lipoprotein Lipase, Male, Middle Aged, Protein Binding, Protein Transport, Receptors, Lipoprotein, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundA protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia). During the characterization of a monoclonal antibody-based immunoassay for GPIHBP1, we encountered two plasma samples (both from patients with chylomicronemia) that contained an interfering substance that made it impossible to measure GPIHBP1. That finding raised the possibility that those samples might contain GPIHBP1 autoantibodies.MethodsUsing a combination of immunoassays, Western blot analyses, and immunocytochemical studies, we tested the two plasma samples (as well as samples from other patients with chylomicronemia) for the presence of GPIHBP1 autoantibodies. We also tested the ability of GPIHBP1 autoantibodies to block the binding of lipoprotein lipase to GPIHBP1.ResultsWe identified GPIHBP1 autoantibodies in six patients with chylomicronemia and found that these autoantibodies blocked the binding of lipoprotein lipase to GPIHBP1. As in patients with GPIHBP1 deficiency, those with GPIHBP1 autoantibodies had low plasma levels of lipoprotein lipase. Three of the six patients had systemic lupus erythematosus. One of these patients who had GPIHBP1 autoantibodies delivered a baby with plasma containing maternal GPIHBP1 autoantibodies; the infant had severe but transient chylomicronemia. Two of the patients with chylomicronemia and GPIHBP1 autoantibodies had a response to treatment with immunosuppressive agents.ConclusionsIn six patients with chylomicronemia, GPIHBP1 autoantibodies blocked the ability of GPIHBP1 to bind and transport lipoprotein lipase, thereby interfering with lipoprotein lipase-mediated processing of triglyceride-rich lipoproteins and causing severe hypertriglyceridemia. (Funded by the National Heart, Lung, and Blood Institute and the Leducq Foundation.).

Published
2017

31. Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia

Author

Dijk, Wieneke, Di Filippo, Mathilde, Kooijman, Sander, van Eenige, Robin, Rimbert, Antoine, Caillaud, Amandine, Thedrez, Aurélie, Arnaud, Lucie, Pronk, Amanda, Garçon, Damien, Sotin, Thibaud, Lindenbaum, Pierre, Ozcariz Garcia, Enrique, Pais de Barros, Jean-Paul, Duvillard, Laurence, Si-Tayeb, Karim, Amigo, Nuria, Le Questel, Jean-Yves, Rensen, Patrick C.N., Le May, Cédric, Moulin, Philippe, and Cariou, Bertrand

Published
2022
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34. SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia

Author

Angoulvant, Denis, Beliard, Sophie, Boccara, Franck, Bruckert, Eric, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charriere, Sybil, Cottin, Yves, Filippo, Mathilde DI., Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, Giral, Philippe, Gonbert, Sophie, Hankard, Regis, Inamo, Jocelyn, Kalmykova, Olga, Krempf, Michel, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnes, Pierre Rabes, Jean, Sultan, Ariane, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cecile, Ziegler, Olivier, Vimont, Alexandre, Chapman, M. John, Carrié, Alain, and Béliard, Sophie

Published
2020
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37. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

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. 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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. 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Published
2023
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38. Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Author

Bonnot Ruget, Mathilde, Moulin, Philippe, Pagan, Cécile, Cheillan, David, Marmontel, Oriane, Raverot, Gerald, Benlian, Pascale, and Di Filippo, Mathilde

Subjects
*HDL cholesterol, *LDL cholesterol, *NUCLEOTIDE sequencing, *BLOOD lipids, *GENETIC variation, *VITAMIN A
Abstract

This article discusses a case study of a patient with an unusual form of hypobetalipoproteinemia (HBL), a condition characterized by low levels of LDL cholesterol. The patient's clinical features and lipid profile did not align, leading to further investigation using next-generation sequencing. The study identified rare mutations in the DHCR7 gene, which is associated with Smith Lemli Opitz syndrome (SLOS). SLOS is a rare autosomal recessive disorder that affects cholesterol metabolism. The diagnosis of SLOS prompted dietary cholesterol supplementation and genetic counseling for the family. This case highlights the importance of combining genetic testing and biochemical investigations to accurately diagnose and treat rare dyslipidemia disorders. [Extracted from the article]

Published
2024
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44. Cardiovascular contrasted phenotypes in patients with familial hypercholesterolemia: Design and baseline characteristics of the SAFIR study.

Author

Thys, An, Gallo, Antonio, Beliard, Sophie, Bigot-Corbel, Edith, Boccara, Franck, Botturi-Cavailles, Karine, Bruckert, Eric, Cottin, Yves, Croyal, Mikaël, Farnier, Michel, Ferrières, Jean, Krempf, Michel, Moulin, Philippe, Paillard, François, Vaudron, Adrien, Yelnik, Cécile, Wargny, Matthieu, and Cariou, Bertrand

Published
2024
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50. Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients.

Author

Vasse, Joséphine, Lassartesse, Audrey, Marmontel, Oriane, Charrière, Sybil, Bouveyron, Caroline, Marrié, Nathanaël, Moulin, Philippe, and Di Filippo, Mathilde

Subjects
LDL cholesterol, STANDARD deviations
Abstract

Low-density lipoprotein cholesterol (LDL-C) concentration was calculated for many years using the Friedewald equation, but those from Sampson and extended-Martin-Hopkins perform differently. Their accuracy in fasting hypertriglyceridemia and non-fasting state were compared and the clinical impact of implementing these equations on risk classification and on the setting of lipid treatment goals was assessed. Seven thousand six standard lipid profiles and LDL-C concentrations measured after ultracentrifugation (uLDL-C) were retrospectively included. uLDL-C were compared to calculated LDL-C in terms of correlation, root mean square error, residual error, mean absolute deviations and cardiovascular stratification. In fasting state (n=5,826), Sampson equation was the most accurate, exhibited the highest percentage of residual error lower than 0.13 mmol/L (67 vs. 57 % and 63 % using Friedewald, or extended-Martin-Hopkins equations respectively) and the lowest misclassification rate. However, the superiority of this equation was less pronounced when triglyceride concentration (TG) <4.5 mmol/L were considered. In post-prandial state (n=1,180), extended-Martin-Hopkins was the most accurate equation, exhibited the highest percentage of residual error lower than 0.13 mmol/L (73 vs. 39 % and 57 % using Friedewald and Sampson equation respectively). Overall, the negative bias with Sampson equation may lead to undertreatment. Conversely, a positive bias was observed with extended Martin-Hopkins. None of the equations tested are accurate when TG>4.52 mmol/L. When TG<4.52 mmol/L both Sampson and Martin-Hopkins equations performed better than Friedewald. The switch to one or the other should take in account their limitations, their ease of implementation into the lab software and the proportion of non-fasting patients. [ABSTRACT FROM AUTHOR]

Published
2024
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