VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review by Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj

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International Survey on Phenylketonuria Newborn Screening by Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham, Urh Grošelj

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Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Earl... by Ana Drole Torkar, Ana Klinc, Ziga Iztok Remec, Branislava Rankovic, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Cuk, Marusa Debeljak, Eva Kozjek, Barbka Repic Lampret, Matej Mlinaric, Tinka Mohar Hajnsek, Daša Perko, Katarina Stajer, Tine Tesovnik, Domen Trampuz, Blanka Ulaga, Jernej Kovac, Tadej Battelino, Mojca Zerjav Tansek, Urh Groselj

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Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia by Urh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav Tanšek, Špela Miroševič, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem Mrak, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar

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