92 results on '"Grošelj Urh"'
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2. Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji
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Šmon Andraž, Grošelj Urh, Žerjav Tanšek Mojca, Biček Ajda, Oblak Adrijana, Zupančič Mirjana, Kržišnik Ciril, Repič Lampret Barbka, Murko Simona, Hojker Sergej, and Battelino Tadej
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congenital hypothyroidism ,phenylketonuria ,mass screening ,incidence ,slovenia ,kongenitalnihi potireoidizem ,fenilketonurija ,presejalni testi ,incidenca ,slovenija ,Public aspects of medicine ,RA1-1270 - Abstract
Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH). Cilj te raziskave je analiza podatkov presejanja novorojencev v Sloveniji v obdobju med letoma 1993 in 2012 za PKU ter med letoma 1991 in 2012 za CH. Metode. Vzorci krvi so bili odvzeti petim novorojencem med tretjim in petim dnem življenja. Pri presejanju za PKU se uporablja fluorometrična metoda, presejanje za CH pa poteka z metodo DELFIA. Rezultati. Od leta 1993 do leta 2012 je bil presejalni test za PKU izveden pri 358.831 novorojencih. Pri 57 otrocih je bil PKU potrjen. Pri 427.396 novorojencih med letoma 1991 in 2012 je bil izveden presejalni test za CH. Pri 184 otrocih je bil CH potrjen. V navedenih obdobjih je bila incidenca PKU 1:6769 in incidenca CH 1:2323. Zaključki. Uspešna implementacija presejanja novorojencev za PKU in CH je imela pomembno vlogo pri preprečevanju resnih zapletov pri obolelih otrocih. Smiselno bi bilo v program presejanja vključiti nove metabolne bolezni.
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- 2015
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3. ESCAP statement on the care for children and adolescents with gender dysphoria: an urgent need for safeguarding clinical, scientific, and ethical standards
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Drobnič Radobuljac, Maja, Grošelj, Urh, Kaltiala, Riittakerttu, Vermeiren, Robert, Crommen, Sofie, Kotsis, Konstantinos, Danese, Andrea, Hoekstra, Pieter J., and Fegert, Jörg M.
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- 2024
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4. Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children
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Groselj, Urh, Kafol, Jan, Molk, Neza, Sedej, Katarina, Mlinaric, Matej, Sikonja, Jaka, Sustar, Ursa, Kern, Barbara Cugalj, Kovac, Jernej, Battelino, Tadej, and Debeljak, Marusa
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- 2025
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5. Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort: Identification of seven new homozygous patients
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Ain, Quratul, Sikonja, Jaka, Sadiq, Fouzia, Shafi, Saeed, Kafol, Jan, Gorjanc, Tevz, Sustar, Ursa, Kovac, Jernej, Khan, Mohammad Iqbal, Ajmal, Muhammad, and Groselj, Urh
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- 2025
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6. Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study
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Elshorbagy, Amany, Lyons, Alexander R.M., Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Dharmayat, Kanika I., Brandts, Julia, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid F., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Ashavaid, Tester F., Banach, Maciej, Binder, Christoph J., Bourbon, Mafalda, Brunham, Liam R., Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Davletov, Kairat, Descamps, Olivier S., Ezhov, Marat, Gaita, Dan, Groselj, Urh, Harada-Shiba, Mariko, Holven, Kirsten B., Kayikcioglu, Meral, Khovidhunkit, Weerapan, Lalic, Katarina, Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lima-Martinez, Marcos M., Lin, Jie, Maher, Vincent, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Nordestgaard, Børge G., Panayiotou, Andrie G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sadoh, Wilson E., Schunkert, Heribert, Shek, Aleksandr B., Stroes, Erik, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Tilney, Myra, Tomlinson, Brian, Truong, Thanh-Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez, Alejandra C., Viigimaa, Margus, Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Arca, Marcello, Averna, Maurizio, Schreier, Laura, Pang, Jing, Ebenbichler, Christoph, Dieplinger, Hans, Innerhofer, Reinhold, Winhofer-Stöckl, Yvonne, Greber-Platzer, Susanne, Krychtiuk, Konstantin, Speidl, Walter, Toplak, Hermann, Widhalm, Kurt, Stulnig, Thomas, Huber, Kurt, Höllerl, Florian, Rega-Kaun, Gersina, Kleemann, Lucas, Mäser, Martin, Scholl-Bürgi, Sabine, Säly, Christoph, Mayer, Florian J., Sperone, Alexandra, Tanghe, Chloé, Gérard, Anne-Catherine, Pojskic, Lamija, Sisic, Ibrahim, Durak Nalbantic, Azra, Ejubovic, Malik, Jannes, Cinthia E., Pereira, Alexandre C., Krieger, Jose E., Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Baass, Alexis, Bergeron, Jean, Bernard, Sophie, Brisson, Diane, Cermakova, Lubomira, Couture, Patrick, Francis, Gordon A., Gaudet, Daniel, Hegele, Robert A., Khoury, Etienne, Mancini, G.B. John, McCrindle, Brian W., Paquette, Martine, Ruel, Isabelle, Iatan, Iulia, Cuevas, Ada, Wang, Xumin, Meng, Kang, Song, Xiantao, Yong, Qiang, Jiang, Tao, Liu, Ziyou, Duan, Yanyu, Hong, Jing, Ye, Pucong, Chen, Yan, Qi, Jianguang, Liu, Zesen, Li, Yuntao, Zhang, Chaoyi, Peng, Jie, Yang, Ya, Yu, Wei, Wang, Qian, Yuan, Hui, Cheng, Shitong, Jiang, Long, Chong, Mei, Jiao, Jian, Wu, Yue, Wen, Wenhui, Xu, Liyuan, Zhang, Ruiying, Qu, Yichen, He, Jianxun, Fan, Xuesong, Wang, Zhenjia, Chow, Elaine, Pećin, Ivan, Perica, Dražen, Symeonides, Phivos, Vrablik, Michal, Ceska, Richard, Soska, Vladimir, Tichy, Lukas, Adamkova, Vera, Franekova, Jana, Cifkova, Renata, Kraml, Pavel, Vonaskova, Katerina, Cepova, Jana, Dusejovska, Magdalena, Pavlickova, Lenka, Blaha, Vladimir, Rosolova, Hana, Nussbaumerova, Barbora, Cibulka, Roman, Vaverkova, Helena, Cibickova, Lubica, Krejsova, Zdenka, Rehouskova, Katerina, Malina, Pavel, Budikova, Milena, Palanova, Vaclava, Solcova, Lucie, Lubasova, Alena, Podzimkova, Helena, Bujdak, Juraj, Vesely, Jiri, Jordanova, Marta, Salek, Tomas, Urbanek, Robin, Zemek, Stanislav, Lacko, Jan, Halamkova, Hana, Machacova, Sona, Mala, Sarka, Cubova, Eva, Valoskova, Katerina, Burda, Lukas, Benn, Marianne, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Dr Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed Abdoul, Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Christmann, Jutta, Dressel, Alexander, Fath, Felix, Ferraro, Chiara, Frenzke, Lydia, Gopon, Alica, Klein, Isabel, Pienkowska, Dominika, Sietmann, Tobias, Sonntag, Antonia, Adjan, Omar, Bahrmann, Philipp, Baessler, Andrea, Barkowski, Rasmus, Beckerdjian, Raffi, Berr, Christina, Birkenfeld, Andreas, Böll, Gereon, Carstensen, Avisha, Demuth, Ilya, Finkernagel, Holger, Gouni-Berthold, Ioanna, Hahmann, Harry, Hamerle, Michael, Halder, Julian, Heide, Maria, Julius, Ulrich, Kassner, Ursula, Katzmann, Julius L, Kirschbaum, Anja, Klose, Gerald, Könemann, Stephanie, König, Christel, König, Wolfgang, Krämer, Bernhard, Kuprat, Gerrit, Koschker, Ann-Cathrin, Kilic, Özlem, Lindenmeier, Gerd, Van de Loo, Iris, Lorenz, Babette, Lorenz, Elke, Löhr, Birgit, McChord, Johanna, Maslarska, Mariya, Methe, Heiko, Merkel, Martin, Moussaoui, Zineb, Müller-Kozarez, Irina, Olivier, Christoph B, Ong, Peter, Otte, Britta, Parhofer, Klaus, Partsch, Carl-Joachim, Paulus, Michael, Pehlivanli, Sinan, Pflederer, Tobias, Pusl, Thomas, Richter, Veronika, Rosner, Stefanie, Sanin, Veronika, Schäfer, Sebastian, Schäfer, Christoph, Schatz, Ulrike, Schirmer, Stephan, Schmidt, Christine, Seeger, Wolfgang, Sisovic, Snezna, Spens, Antje, Jablonski, Ksenija Stach, Stadelmann, Alexander, Steinhagen-Thiessen, Elisabeth, Stürzebecher, Paulina, Tafelmeier, Maria, Tillack, Dörthe, Tselmin, Sergey, Tünnemann-Tarr, Adrienn, Vogt, Anja, Beckerath, Jens von, Wilke, Andreas, Wolf, Ulrich, Zemmrich, Claudia, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Athyros, Vasileios, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Bilianou, Eleni, Koutagiar, Iosif, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Koutsogianni, Amalia-Despoina, Petkou, Ermioni, Milionis, Haralambos, Koulouri, Anastasia, Prodromiadou, Elisavet, Karányi, Zsolt, Harangi, Mariann, Bajnok, László, Audikovszky, Mária, Márk, László, Benczúr, Béla, Reiber, István, Nagy, Gergely, Nagy, András, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Altaey, Mays, Al-Jumaily, Khalid, Rasul, Dilshad, Abdalsahib, Ali Fawzi, Jabbar, Amer Abdl, Al-ageedi, Mohanad, Dhamin, Mohammed, AlFil, Sarmad, Khadhim, Foad, Miahy, Sabah, Agar, Ruth, Catapano, Alberico Luigi, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Piro, Salvatore, Suppressa, Patrizia, Meregalli, Giancarla, Borghi, Claudio, Muntoni, Sandro, Calabrò, Paolo, 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, Fortunato, Giuliana, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Cefalù, Angelo Baldassare, Biasucci, Giacomo, Zambon, Sabina, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, D'Erasmo, Laura, Federici, Massimo, Ben, Maria Del, Bartuli, Andrea, Giaccari, Andrea, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Matsuki, Kota, Hori, Mika, Ogura, Masatsune, Masuda, Daisaku, Kobayashi, Takuya, Nagahama, Kumiko, Al-Jarallah, Mohammed, Radovic, Mirjana, Lunegova, Olga, Bektasheva, Erkayim, Abilova, Saamay, Erglis, Andrejs, Gilis, Dainus, Nesterovics, Georgijs, Saripo, Vita, Meiere, Ruta, Skudrina, Gunda, Terauda, Elizabete, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Aliosaitiene, Urte, Kutkiene, Sandra, Abdul Kadir, Siti Hamimah Sheikh, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Abdul Hamid, Hasidah, Abdul Razak, Suraya, Al-Khateeb, Alyaa, Abd Muid, Suhaila, Abdul Rahman, Thuhairah, Kasim, Sazzli Shahlan, Radzi, Ahmad Bakhtiar Md, Ibrahim, Khairul Shafiq, Rosli, Marshima Mohd, Razali, Rafezah, Chua, Yung An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Aziz, Nazirul, Rosman, Azhari, Abdul Murad, NorAzian, Jalaludin, Mohd Amin, Abdul Latif, Ahmad Zubaidi, Azzopardi, C., Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Villa, Neftali E Antonio, Vazquez, Arsenio Vargas, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Rodriguez, Betsabel, Macías, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Herrera, Laura G. Gomez, Mendia, Luis E. Simental, Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Peña, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Cazares, Hector E. Arriaga, Gonzalez, Jesus R., Valencia, Carla V. Mendez, Padilla, Francisco G., Prado, Ramon Madriz, Ibarra, Manuel O. De los Rios, Villicaña, Ruy D. Arjona, Rivera, Karina J. Acevedo, Carrera, Ricardo Allende, Alvarez, Jose A., Martinez, Jose C. Amezcua, Bustillo, Manuel de los Reyes Barrera, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Andrade, Mario H. Figueroa, Ortega, Ashanty Flores, Alcala, Hector Garcia, de Leon, Laura E. Garcia, Guzman, Berenice Garcia, Garcia, Jose J. Garduño, Cuellar, Juan C. Garnica, Cruz, Jose R. Gomez, Garcia, Anell Hernandez, Almada, Jesus R. Holguin, Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Rodriguez, Alma B. Medrano, Oyervides, Jose C. Morales, Vazquez, Daniel I. Perez, Rodriguez, Eduardo A. Reyes, Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Talavera, Luis A. Valdez, Arroyo, Luis E. Vera, Carrillo, Eloy A. Zepeda, Stroes, Erik S, Defesche, J, Zuurbier, L, Reeskamp, L, Ibrahim, S, Roeters van Lennep, Jeanine, Wiegman, Albert, 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 Saeed Ullah, Al-Nouri, Fahad, Starostecka, Ewa, Konopka, Agnieszka, Bielecka-Dabrowa, Agata, Lewek, Joanna, Sosnowska, Bozena, Gąsior, Mariusz, Dyrbuś, Krzysztof, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Chmara, Magdalena, Wasąg, Bartosz, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Medeiros, Ana Margarida, Alves, Ana Catarina, Silva, Francisco, Lobarinhas, Goreti, Palma, Isabel, de Moura, Jose Pereira, Rico, Miguel Toscano, Rato, Quitéria, Pais, Patrícia, Correia, Susana, Moldovan, Oana, Virtuoso, Maria João, Araujo, Francisco, Salgado, Jose Miguel, Colaço, Ines, Dumitrescu, Andreea, Lengher, Calin, Mosteoru, Svetlana, Meshkov, Alexey, Ershova, Alexandra, Rozhkova, Tatiana, Korneva, Victoria, Yu, Kuznetsova T., Zafiraki, Vitaliy, Voevoda, Mikhail, Gurevich, Victor, Duplyakov, Dmitry, Ragino, Yulia, Chubykina, Uliana, Shaposhnik, Igor, Alkaf, Fahmi, Khudari, Alia, Rwaili, Nawal, Al-Allaf, Faisal, Alghamdi, Mohammad, Batais, Mohammed A, Almigbal, Turky H, Kinsara, Abdulhalim, AlQudaimi, Ashraf Hammouda Ahmed, Awan, Zuhier, Elamin, Omer A, Altaradi, Hani, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Lam, Carolyn, Le, Tan Ju, Siang, Eric Lim Tien, Dissanayake, Sanjaya, I-Shing, Justin Tang, Shyong, Tai E, Jin, Terrance Chua Siang, Ting, Sharon Pek Li, Ming, Jeremy Hoe Kian, Drum, Chester Lee, Nastar, Fathima Ashna, Jia, Loh Wann, Ya, Natalie Koh Si, Jie, Marvin Chua Wei, Dalan, Rinkoo, Wei, Yong Quek, sian, Tiong Yee, Keong, Yeo Khung, Rong, Siau Kai, Jin, Darren Seah Ee, Ming, Ian Koh Jan, Chang, Tan Hong, Peng, Fabian Yap Kok, Vasanwala, Rashida Farhad, Raslova, Katarina, Balinth, Karin, Buganova, Ingrid, Fabryova, Lubomira, Kadurova, Michaela, Klabnik, Alexander, Kozárová, Miriam, Sirotiakova, Jana, Battelino, Tadej, Cevc, Matija, Debeljak, Marusa, Torkar, Ana Drole, Fras, Zlatko, Jug, Borut, Cugalj, Barbara Kern, Kovac, Jernej, Mlinaric, Matej, Sikonja, Jaka, Pilcher, Gillian Joan, Blom, D J, Wolmarans, K H, Brice, B C, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Isla, Leopoldo Pérez, Fuentes, Francisco, Badimon, Lina, Martin, François, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Chattranukulchai, Pairoj, Jiamjarasrungsi, Wiroj, Thongtang, Nuntakorn, Krittayaphong, Rungroj, Vathesatogkit, Prin, Sriphrapradang, Chutintorn, Phimphilai, Mattabhorn, Leelawattana, Rattana, Anthanont, Pimjai, Suraamornkul, Swangjit, Deerochanawong, Chaicharn, Senthong, Vichai, Torpongpun, Artit, Suteerayongprasert, Panuwat, Pengpong, Nawarat, Sathavarodom, Nattapol, Sunanta, Usanee, Porntharukchareon, Thachanun, Kiatpanabhikul, Phatharaporn, Kaewkrasaesin, Chatchon, Kongkit, Jaruwan, Umphonsathien, Mongkontida, Akbulut, Mehmet, Alici, Gökhan, Bayram, Fahri, Can, Levent Hürkan, Celik, Ahmet, Ceyhan, Ceyhun, Coskun, Fatma Yilmaz, Demir, Mesut, Demircan, Sabri, Dogan, Volkan, Durakoglugil, Emre, Dural, İbrahim Etem, 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, Tokgozoglu, Lale, Tuncez, Abdullah, Vural, Mirac, Yenercag, Mustafa, Yesilbursa, Dilek, Yigit, Zerrin, Yildirim, Aytul Belgi, Yildirir, Aylin, Yilmaz, Mehmet Birhan, Atallah, Bassam, Traina, Mahmoud, Sabbour, Hani, Abdul Hay, Dana, Luqman, Neama, Elfatih, Abubaker, Abdulrasheed, Arshad, Manla, Yosef, Kwok, See, DellOca, Nicolas, Alieva, Rano B., Fozilov, Khurshid G., Hoshimov, Shavkat U., Nizamov, Ulugbek I., Kan, Liliya E., Kim, Andrey R., Abdullaeva, Guzal J., Abdullaev, Alisher A., Do, Doan Loi, Nguyen, Mai Ngoc Thi, Kim, Ngoc Thanh, Le, Thanh Tung, Le, Hong An, and Ray, Kausik K.
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- 2024
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7. 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.
- Published
- 2024
- Full Text
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8. Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study
- Author
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Alam, Jamshed, Ali, Muhammad, Anwer, Jamal, Awan, Waheed Akhtar, Bham, Shireen Qassim, Fatima, Nousheen, Gul, Farah, Hameed, Syeda Sughra, Haroon, Maryam, Hasan, Mujtaba, Jadoon, Arzu, Jamil, Shazia, Khan, Asaad Akbar, Khan, Sabeen Abid, Kidwai, Saera Suhail, Munir, Atif, Bin Nazir, Muhammad Talha, Khan Niazi, Gul Zaman, Qabulio, Sumera Nawaz, Rana, Muhammad Asim, Rehman, Adeel ur, Safdar, Saba, Shah, Saeedullah, Rehman Ahmed Sheikh, Tanzeel Ur, Yousuf, Abeer, Zehra, Kaneez, Zehra, Tehzeeb, Sadiq, Fouzia, Shafi, Saeed, Sikonja, Jaka, Khan, Madeeha, Ain, Quratul, Khan, Mohammad Iqbal, Rehman, Habibur, Mlinaric, Matej, Gidding, Samuel S., and Groselj, Urh
- Published
- 2023
- Full Text
- View/download PDF
9. Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network
- Author
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Abdelrazik, Alaa, Mello E Silva, Alberto, Vonbank, Alexander, Tselepis, Alexandros D., Sonmez, Alper, Passaro, Angelina, Vogt, Anja, Mertens, Ann, Verhaegen, Ann, Postadzhiyan, Arman S., Kirilmaz, Bahadir, Gungor, Baris, Hedegaard, Berit S., Cariou, Bertrand, Otte, Britta, Özkan, Buğra, Berge, Christ, Ebenbichler, Christoph F., Binder, Christoph J., Olivier, Christoph, Azzopardi, Conrad, Soler, Cristina, Gaita, Dan, Weghuber, Daniel, Ural, Dilek, Cruz, Diogo, Vinereanu, Dragos, Pencu, Elena D., Hagström, Emil, Schmidt, Erik B., Stroes, Erik S., Liberopoulos, Evangelos, Demeure, Fabian, Fimiani, Fabio, Pellegatta, Fabio, Bayram, Fahri, Henriksen, Finn L., Höllerl, Florian, Cipollone, Francesco, Araújo, Francisco, Boccara, Franck, Paillard, François, Simonyi, Gabor, Iannuzzo, Gabriella, Mandraffino, Giuseppe, Bayly, Graham, Latkovskis, Gustavs, Paragh, György, Rosolova, Hana, Soran, Handrean, Kanstrup, Helle, Toplak, Hermann, Çiçekçioğlu, Hülya, Artac, Inanc, Gouni-Berthold, Ioanna, Duzen, Irfan V., Palma, Isabel M., Reiber, Istvan, Dzivite-Krisane, Iveta, E Roeters VAN Lennep, Jeanine, Jean-Luc, J Balligand, Porto, Joao C., Duarte, João S., Sutter, Johan DE., López-Miranda, José, Mostaza, Jose M., Plisiene, Jurgita, Mert, Kadir U., Holven, Kirsten B., Retterstøl, Kjetil, Thomsen, Kristian K., Tokgozoglu, Lale, Bajnok, Laszlo, Bang, Lia E., Grigore, Liliana, Masana, Lluís, Rallidis, Loukianos S., Banach, Maciej, Waluś-Miarka, Małgorzata, Cabezas, Manuel Castro, Arca, Marcello, Viigimaa, Margus, Bogsrud, Martin P., Mlinarič, Matej, Pirro, Matteo, Averna, Maurizio, Kayikcioglu, Meral, Heitmann, Merete, Mouridsen, Mette, Vrablik, Michal, Farnier, Michel, Langlois, Michel R., Khedr, Milad, Demirbas, Muge Ildizli, Tilney, Myra, Citroni, Nadia, Riksen, Niels P., Runev, Nikolay M., Kupstyte-Kristapone, Nora, Mitchenko, Olena, Weingärtner, Oliver, Ozdogan, Oner, Muñiz-Grijalvo, Ovidio, Basaran, Ozcan, Gupta, Pankaj, Parini, Paolo, Suppressa, Patrizia, Downie, Paul, Jesina, Pavel, Kraml, Pavel, Burchardt, Pawel, Valdivielso, Pedro, Hafe, Pedro Von, Fasching, Peter, Moulin, Philippe, Rato, Quitéria, Innerhofer, Reinhold, Cífková, Renata, Valero, Rene, Scicali, Roberto, Urbánek, Robin, Kavaliauskiene, Roma, Cibulka, Roman, Zambon, Sabina, D'Addato, Sergio, Zemek, Stanislav, Romeo, Stefano, Könemann, Stephanie, Greber-Platzer, Susanne, Stulnig, Thomas, Muhr, Thomas, Khan, Tina Z., Freiberger, Tomas, Šálek, Tomáš, Vasylius, Tomas, Laufs, Ulrich, Schatz, Ulrike, Groselj, Urh, Marco-Benedi, Victoria, Maher, Vincent, Blaha, Vladimír, Soska, Vladimir, Schettler, Volker JJ., Reinhardt, Wolfgang, Pintó, Xavier, Yotov, Yoto, Petrulioniene, Zaneta, Reiner, Željko, Catapano, Alberico L., Tokgözoğlu, Lale, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, and Ray, Kausik K.
- Published
- 2023
- Full Text
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10. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
- Author
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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
- Published
- 2022
- Full Text
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11. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
- Author
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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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12. Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series
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Zerjav Tansek, Mojca, Kodric, Jana, Klemencic, Simona, Boelens, Jaap Jan, van Hasselt, Peter M., Drole Torkar, Ana, Doric, Maja, Koren, Alenka, Avcin, Simona, Battelino, Tadej, and Groselj, Urh
- Published
- 2021
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13. Comparison of liquid chromatography with tandem mass spectrometry and ion-exchange chromatography by post-column ninhydrin derivatization for amino acid monitoring
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Smon, Andraz, Cuk, Vanja, Brecelj, Jernej, Murko, Simona, Groselj, Urh, Zerjav Tansek, Mojca, Battelino, Tadej, and Repic Lampret, Barbka
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- 2019
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14. NEWBORN SCREENING PROGRAM IN SLOVENIA
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Kovač, Jernej, primary, Repič Lampret, Barbka, additional, Iztok Remec, Žiga, additional, Sever Šraj, Teja, additional, and Grošelj, Urh, additional
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- 2024
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15. PRESEJALNO TESTIRANJE NOVOROJENČKOV ZA VROJENE BOLEZNI V SLOVENIJI
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Kovač, Jernej, primary, Repič Lampret, Barbka, additional, Iztok Remec, Žiga, additional, Sever Šraj, Teja, additional, and Grošelj, Urh, additional
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- 2024
- Full Text
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16. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
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Vallejo-Vaz, Antonio J., De Marco, Martina, Stevens, Christophe A.T., Akram, Asif, Freiberger, Tomas, Hovingh, G. Kees, Kastelein, John J.P., Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Al-khnifsawi, Mutaz, AlKindi, Fahad A., Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Ashavaid, Tester F., Binder, Christoph J., Bogsrud, Martin P., Bourbon, Mafalda, Bruckert, Eric, Chlebus, Krzysztof, Corral, Pablo, Descamps, Olivier, Durst, Ronen, Ezhov, Marat, Fras, Zlatko, Genest, Jacques, Groselj, Urh, Harada-Shiba, Mariko, Kayikcioglu, Meral, Lalic, Katarina, Lam, Carolyn S.P., Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lin, Jie, Maher, Vincent, Majano, Nelson, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah M., Nordestgaard, Børge G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Sadoh, Wilson E., Sahebkar, Amirhossein, Shehab, Abdullah, Shek, Aleksander B., Stoll, Mario, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Symeonides, Phivos, Tilney, Myra, Tomlinson, Brian, Truong, Thanh-Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez-Cárdenas, Alejandra, Viigimaa, Margus, Vohnout, Branislav, Widén, Elisabeth, Yamashita, Shizuya, Banach, Maciej, Gaita, Dan, Jiang, Lixin, Nilsson, Lennart, Santos, Lourdes E., Schunkert, Heribert, Tokgözoğlu, Lale, Car, Josip, Catapano, Alberico L., and Ray, Kausik K.
- Published
- 2018
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17. Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review
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Groselj, Urh, Kovac, Jernej, Sustar, Ursa, Mlinaric, Matej, Fras, Zlatko, Podkrajsek, Katarina Trebusak, and Battelino, Tadej
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- 2018
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18. Metabolic control, ApoE genotypes, and dyslipidemia in children, adolescents and young adults with type 1 diabetes
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Macedoni, Maddalena, Hovnik, Tinka, Plesnik, Emil, Kotnik, Primoz, Bratina, Natasa, Battelino, Tadej, and Groselj, Urh
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- 2018
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19. Next generation sequencing as a follow-up test in an expanded newborn screening programme
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Smon, Andraz, Repic Lampret, Barbka, Groselj, Urh, Zerjav Tansek, Mojca, Kovac, Jernej, Perko, Dasa, Bertok, Sara, Battelino, Tadej, and Trebusak Podkrajsek, Katarina
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- 2018
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20. Genetic background of hypercholesterolemia in a large cohort of pediatric patients detected through universal screening program
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Sustar, Ursa, Mlinaric, Matej, Kovač, Jernej, Podkrajšek, Katarina Trebušak, Battelino, Tadej, and Groselj, Urh
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- 2024
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21. HOFH is a life limiting condition: The life journey of deceased HOFH patients in the HICC registry
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Mulder, Janneke W.C.M., Reijman, M. Doortje, Kusters, D. Meeike, Boersma, Eric, Blom, Dirk, Cuchel, Marina, Dann, Eldad J., Freiberger, Tomas, Groselj, Urh, Harada-Shiba, Mariko, Hovingh, G., Ibarretxe, Daiana, Kim, Thanh, Klingel, Reinhard, Raal, Frederick J., Reeskamp, Laurens, Sadiq, Fouzia, Schonck, Willemijn, Truong, Huong, Tromp, Tycho R., Wiegman, Albert, and Van Lennep, Jeanine Roeters
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- 2024
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22. Genetic screening of familial hypercholesterolemia cohort from Pakistan
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Sadiq, Fouzia, Groselj, Urh, Ain, Quratul, Khan, Madeeha, Sikonja, Jaka, Sustar, Ursa, Gorjanc, Tevz, Shafi, Muhammad, and Khan, Mohammad
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- 2024
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23. Additional cardiovascular disease risk factors present in children with familial hypercholesterolemia at the first visit
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Mlinaric, Matej, Sustar, Ursa, Sikonja, Jaka, Kovač, Jernej, Groselj, Urh, and Battelino, Tadej
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- 2024
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24. Pravica mladostnika do samoodločanja in vloga zdravnika
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Grošelj, Urh, primary
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- 2023
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25. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
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Štajer, Katarina, primary, Kovač, Neja, additional, Šikonja, Jaka, additional, Mlinarič, Matej, additional, Bertok, Sara, additional, Brecelj, Jernej, additional, Debeljak, Maruša, additional, Kovač, Jernej, additional, Markelj, Gašper, additional, Neubauer, David, additional, Rus, Rina, additional, Žerjav Tanšek, Mojca, additional, Drole Torkar, Ana, additional, Zver, Aleksandra, additional, Battelino, Tadej, additional, Jiménez Torres, Rosa, additional, and Grošelj, Urh, additional
- Published
- 2023
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26. Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia
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Groselj, Urh, Murko, Simona, Zerjav Tansek, Mojca, Kovac, Jernej, Trampus Bakija, Alenka, Repic Lampret, Barbka, and Battelino, Tadej
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- 2015
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27. Metodologija izgradnje registra redkih nemalignih bolezni v Sloveniji
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Rant, Živa, primary, Grošelj, Urh, additional, and Stanimirović, Dalibor, additional
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- 2023
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28. Newborn screening in southeastern Europe
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Groselj, Urh, Tansek, Mojca Zerjav, Smon, Andraz, Angelkova, Natalija, Anton, Dana, Baric, Ivo, Djordjevic, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa Mulliqi, Maksic, Hajrija, Marginean, Oana, Margineanu, Otilia, Milijanovic, Olivera, Moldovanu, Florentina, Muresan, Mariana, Murko, Simona, Nanu, Michaela, Lampret, Barbka Repic, Samardzic, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljkovic, Maja, Suzic, Biljana, Tincheva, Radka, Tahirovic, Husref, Toromanovic, Alma, Usurelu, Natalia, and Battelino, Tadej
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- 2014
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29. The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration
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Bedlington, Nicole, Abifadel, Marianne, Beger, Birgit, Bourbon, Mafalda, Bueno, Héctor, Ceska, Richard, Cillíková, Kristýna, Cimická, Zdenka, Daccord, Magdalena, Beaufort, Carine de, Dharmayat, Kanika I., Ference, Brian A., Freiberger, Tomáš, Geanta, Marius, Gidding, Samuel S., Grošelj, Urh, Halle, Martin, Johnson, Neil, Novakovic, Tanja, Májek, Ondrej, Pallidis, Athanasios, Peretti, Noel, Pinto, Fausto J., Ray, Kausik Kosh, Rees, Bleddyn, Reeve, John, Reiner, Željko, Santos, Raul D., Schunkert, Heribert, Šikonja, Jaka, Sokolovic, Milka, Tokgözoglu, Lale, Vrablík, Michal, Wiegman, Albert, and Gutiérrez-Ibarluzea, Iñaki
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Declaration ,FH ,Doenças Cardio e Cérebro-vasculares ,children ,prevention ,cardiovascular disease ,EU best practice ,Cardiovascular Disease ,declaration ,implementation ,Children ,Cardiovascular Health ,Prevention ,CVD ,CVH ,EU ,Europe ,cardiovascular health ,familial hypercholesterolaemia ,health systems ,public health ,screening ,EU Best Practice ,ddc: 610 ,Implementation ,Screening ,Public Health ,Health Systems ,Familial Hypercholesterolaemia - Abstract
Familial hypercholesterolaemia (FH) is the most common inherited metabolic disorder characterized by high cholesterol and if left untreated leads to premature cardiovascular disease, such as heart attacks. Treatment that begins early in life, particularly in childhood, is highly efficacious in preventing cardiovascular disease and cost-effective, thus early detection of FH is crucial. However, in Europe, less than 10% of people living with FH are diagnosed and even less receive life-saving treatment. The Prague Declaration is a call to action for national and European Union policymakers and decision-makers and a result of the Czech EU Presidency meeting on FH Paediatric Screening (early detection of inherited high cholesterol) at the Czech Senate in Prague on 6th September 2022. It builds on a considerable body of evidence which was discussed at the Technical Meeting under the auspices of the Slovenian EU Presidency in October 2021. The Prague meeting addressed the outstanding barriers to the systematic implementation of FH paediatric screening across Europe. In this article, we present the key points from the Prague meeting and concrete actions needed to move forward.
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- 2022
30. Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini
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Jalšovec, Tadej, primary, Lah, Benjamin, primary, Bernardo, Maria Ester, primary, Drole Torkar, Ana, primary, Kodrič, Jana, primary, Žerjav Tanšek, Mojca, primary, Avčin, Simona Lucija, primary, Aiuti, Alessandro, primary, Battelino, Tadej, primary, and Grošelj, Urh, primary
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- 2022
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31. Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome)
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Žerjav-Tanšek, Mojca, Kodrič, Jana, Klemenčič, Simona, Boelens, Jaap Jan, van Hasselt, Peter M., Drole Torkar, Ana, Dorič, Maja, Koren, Alenka, Avčin, Simona, Battelino, Tadej, and Grošelj, Urh
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mukopolisaharidoza tipa 2 ,Hunterjev sindrom ,MPS ,hematopoietic stem cell transplantation ,HSCT ,Hunter syndrome ,redke bolezni ,encimska nadomestna terapija ,mucopolysaccharidosis type II ,transplantacija matičnih celic ,udc:616 ,enzyme replacement therapy - Abstract
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients with the severe form of MPS II that received three different management approaches: natural course of the disease without received specific treatment, enzyme replacement therapy (ERT), and hematopoietic stem cell transplantation (HSCT). The decision on the management depended on disease severity, degree of cognitive impairment, and parent’s informed decision. The current benefits of MPS II treatments are limited. The lifelong costly intravenous ERT brings significant benefits but the patients with severe phenotypes and neurological involvement progress to cognitive decline and disability regardless of ERT, as demonstrated in published reviews and our case series. The patient after HSCT was the only one of the three cases reported to show a slowly progressing cognitive development. The type of information from the case series is insufficient for generalized conclusions, but with advanced myeloablative conditioning, HSCT may be a preferred treatment option in early diagnosed MPS II patients with the severe form of the disease and low disease burden at the time of presentation.
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- 2022
32. Assessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population
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Tansek, Mojca Zerjav, Groselj, Urh, Murko, Simona, Kobe, Helena, Lampret, Barbka Repic, and Battelino, Tadej
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- 2012
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33. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene
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Groselj, Urh, Tansek, Mojca Zerjav, Kovac, Jernej, Hovnik, Tinka, Podkrajsek, Katarina Trebusak, and Battelino, Tadej
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- 2012
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34. Towards a comprehensive strategy for the management of rare diseases in Slovenia
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Stanimirović, Dalibor, Murko, Eva, Battelino, Tadej, Grošelj, Urh, and Žerjav-Tanšek, Mojca
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ecosystemic approach ,case study ,obravnava pacienta ,slovenski zdravstveni sistem ,javno zdravje ,Slovenia ,rare diseases ,redke bolezni ,zdravljenje ,patient treatment ,udc:616 - Abstract
Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian healthcare system. One of the potential approaches to tackling this problem and treating patients with RDs in a quality and effective manner is to form an RD ecosystem. This represents a functional environment that integrates all stakeholders, procedures, and relationships required for the coordinated and effective treatment of patients. This paper explores the current situation in the field of RDs, especially in light of the proposed ecosystemic arrangement, and provides an outline for the design of an RD ecosystem in Slovenia. The research applies a case-study design, where focus groups are used to collect evidence from the field, assess the state of affairs, and generate ideas. Structured focus group discussions were conducted with preeminent experts affiliated with the leading institutions in the field of RDs in Slovenia. Analyses and interpretations of the obtained data were carried out by means of conventional content analysis. Setting up an RD ecosystem in Slovenia would lead to significant benefits for patients, as it could promote the coordination of healthcare treatment and facilitate extensive monitoring of the treatment parameters and outcomes. A well-organized RD ecosystem could garner considerable systemic benefits for evidence-informed policymaking, a better utilization of resources, and technological innovation. Delivering quality healthcare in this complex field is largely reliant on the effective integration and collaboration of all entities within the RD ecosystem, the alignment of related systemic factors, and the direction of healthcare services to support the needs and well-being of patients with RDs.
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- 2022
35. GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV
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Lah, Benjamin, primary, Jalšovec, Tadej, additional, Drole Torkar, Ana, additional, Kodrič, Jana, additional, Battelino, Saba, additional, Žerjav Tanšek, Mojca, additional, Battelino, Tadej, additional, and Grošelj, Urh, additional
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- 2022
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36. GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS
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Lah, Benjamin, primary, Jalšovec, Tadej, additional, Drole Torkar, Ana, additional, Kodrič, Jana, additional, Battelino, Saba, additional, Žerjav Tanšek, Mojca, additional, Battelino, Tadej, additional, and Grošelj, Urh, additional
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- 2022
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37. Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
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Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, and Groselj, Urh
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- 2020
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38. How health care professionals confront and solve ethical dilemmas – a tale of two countries: Slovenia and Croatia
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Grosek, Štefan, Kučan, Rok, Grošelj, Jon, Oražem, Miha, Grošelj, Urh, Erčulj, Vanja, Lajovic, Jaro, Ivanc, Blaž, Novak, Milivoje, Prpić Massari, Larisa, Mimica Matanović, Suzana, Čerfalvi, Vesna, Meštrović, Julije, Borovečki, Ana, Grosek, Štefan, Kučan, Rok, Grošelj, Jon, Oražem, Miha, Grošelj, Urh, Erčulj, Vanja, Lajovic, Jaro, Ivanc, Blaž, Novak, Milivoje, Prpić Massari, Larisa, Mimica Matanović, Suzana, Čerfalvi, Vesna, Meštrović, Julije, and Borovečki, Ana
- Abstract
Aim To assess the differences in the way how Slovenian and Croatian health care professionals (HCPs) confront ethical dilemmas and perceive the role of hospital ethics committees (HECs). Methods This cross-sectional, survey-based study involved HCPs from three Slovenian and five Croatian university medical centers (UMC). The final sample sizes were 308 (244 or 79.2% women) for Slovenia and 485 (398 or 82.1% women) for Croatia. Results Compared with Croatian physicians, Slovenian physicians reported a higher share of ethical dilemmas regarding waiting periods for diagnostics or treatment, suboptimal working conditions due to interpersonal relationships in the ward, and end-of-life treatment withdrawal, and a lower share regarding access to palliative care and patient information protection. Compared with Croatian nurses, Slovenian nurses reported a lower share of ethical dilemmas regarding the distribution of limited resources, recognizing the patient’s best interests, and access to palliative care. Compared with Croatian other HCPs, Slovenian other HCPs reported a lower burden of ethical dilemmas regarding waiting periods for diagnostics or treatment, distribution of limited resources, and access to palliative care. When encountering an ethical dilemma, all HCPs in both countries would first consult their colleagues. Slovenian and Croatian HCPs recognized the importance of the HECs to a similar extent, but viewed their role differently. Conclusion Croatian and Slovenian HCPs are confronted with different ethical dilemmas and perceive the role of HECs differently
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- 2021
39. How health care professionals confront and solve ethical dilemmas – a tale of two countries: Slovenia and Croatia
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Grosek, Štefan, primary, Kučan, Rok, additional, Grošelj, Jon, additional, Oražem, Miha, additional, Grošelj, Urh, additional, Erčulj, Vanja, additional, Lajovic, Jaro, additional, Ivanc, Blaž, additional, Novak, Milivoje, additional, Prpić Massari, Larisa, additional, Mimica Matanović, Suzana, additional, Čerfalvi, Vesna, additional, Meštrović, Julije, additional, and Borovečki, Ana, additional
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- 2021
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40. ETIČNI VIDIKI CEPLJENJA V OTROŠTVU
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Rus, Meta, primary and Grošelj, Urh, additional
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- 2021
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41. ETHICS OF VACCINATION IN CHILDHOOD
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Rus, Meta, primary and Grošelj, Urh, additional
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- 2021
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42. The first nationwide study on facing and solving ethical dilemmas among healthcare professionals in Slovenia
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Grosek, Štefan, primary, Kučan, Rok, additional, Grošelj, Jon, additional, Oražem, Miha, additional, Grošelj, Urh, additional, Erčulj, Vanja, additional, Lajovic, Jaro, additional, Borovečki, Ana, additional, and Ivanc, Blaž, additional
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- 2020
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43. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia:A Global Call to Action
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Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Čillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., De Ferranti, Sarah, Eiselé, Jean Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Karlsson, Gunnar N., Kayikçioǧlu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., López, Greizy, Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, Nordestgaard, Børge G., Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Čillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., De Ferranti, Sarah, Eiselé, Jean Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Karlsson, Gunnar N., Kayikçioǧlu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., López, Greizy, Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, and Nordestgaard, Børge G.
- Abstract
Importance: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. Observations: In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing
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- 2020
44. Universal Screening for Familial Hypercholesterolemia in Two Populations
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Sustar, Ursa, Mlinaric, Matej, Kovac, Jernej, Arens, Stefan, Bizjan, Barbara Jenko, Podkrajsek, Katarina Trebusak, Danne, Thomas, Battelino, Tadej, Kordonouri, Olga, and Groselj, Urh
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- 2022
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45. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
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Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, and Groselj, Urh
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- 2022
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46. Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease
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Merzel Šabović, Eva Klara, primary, Žerjav Tanšek, Mojca, additional, Grošelj, Urh, additional, and Dragoš, Vlasta, additional
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- 2020
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47. Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
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Bizjak, Neli, Zerjav Tansek, Mojca, Avbelj Stefanija, Magdalena, Repic Lampret, Barbka, Mezek, Ajda, Drole Torkar, Ana, Battelino, Tadej, and Groselj, Urh
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- 2020
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48. Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA
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Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, and Groselj, Urh
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- 2020
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49. Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest?
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Groselj, Urh, Tansek, Mojca Zerjav, and Battelino, Tadej
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- 2014
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50. Newborn screening in Slovenia: Presejanje novorojencev v Sloveniji
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Battelino, Tadej, Biček, Ajda, Grošelj, Urh, Hojker, Sergej, Kržišnik, Ciril, Murko, Simona, Oblak, Adrijana, Repič-Lampret, Barbka, Šmon, Andraž, Zupančič, Mirjana, and Žerjav-Tanšek, Mojca
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- 2015
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