@phdthesis{mef:7273, author = {{Bakoš, Matija}}, title = {{Troponin u urinu kao marker srčanoga oštećenja u djece}}, } @mastersthesis{mef:6927, author = {{Miljanić, Klara}}, title = {{Klinička, neuroslikovna i genetička obilježja pacijenata sa sindromom Leigh}}, } @mastersthesis{mef:6786, author = {{Bukovac, Antonia}}, title = {{Metaboličke miopatije}}, } @mastersthesis{mef:6762, author = {{Benčić, Jelena}}, title = {{Fenilketonurija i trudnoća}}, } @mastersthesis{mef:6773, author = {{Bobek, Klara}}, title = {{Poremećaj metabolizma purina i pirimidina u djece}}, } @article{mef:6942, author = {{D’Onofrio, Gianluca and Accogli, Andrea and Severino, Mariasavina and Caliskan, Haluk and Kokotović, Tomislav and Blažeković, Antonela and Gotovac Jerčić, Kristina and Markovic, Silvana and Žigman, Tamara and Goran, Krnjak and Barišić, Nina and Duranovic, Vlasta and Ban, Ana and Borovečki, Fran and Petković Ramadža, Danijela and Barić, Ivo and Fazeli, Walid and Herkenrath, Peter and Marini, Carla and Vittorini, Roberta and Gowda, Vykuntaraju and Bouman, Arjan and Rocca, Clarissa and Alkhawaja, Issam Azmi and Murtaza, Bibi Nazia and Rehman, Malik Mujaddad Ur and Al Alam, Chadi and Nader, Gisele and Mancardi, Maria Margherita and Giacomini, Thea and Srivastava, Siddharth and Alvi, Javeria Raza and Tomoum, Hoda and Matricardi, Sara and Iacomino, Michele and Riva, Antonella and Scala, Marcello and Madia, Francesca and Pistorio, Angela and Salpietro, Vincenzo and Minetti, Carlo and Rivière, Jean-Baptiste and Srour, Myriam and Efthymiou, Stephanie and Maroofian, Reza and Houlden, Henry and Vernes, Sonja Catherine and Zara, Federico and Striano, Pasquale and Nagy, Vanja}}, title = {{Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder}}, } @article{mef:6541, author = {{Šmaguc, Ana and Ramadža, Danijela Petković and Sarnavka, Vladimir and Krželj, Vjekoslav and Lozić, Bernarda and Pušeljić, Silvija and Rahelić, Valentina and Mesarić, Nikola and Grubić, Marina and Bogdanić, Ana and Špehar Uroić, Anita and Žigman, Tamara and Grizelj, Ruža and Vuković, Jurica and Mardešić, Duško and Szatmari, Ildiko and Rivera, Isabel and Fumić, Ksenija and Barić, Ivo}}, title = {{Iskustva s galaktozemijom u Hrvatskoj}}, } @article{mef:6589, author = {{Mütze, Ulrike and Gleich, Florian and Barić, Ivo and Baumgartner, Mathias and Burlina, Alberto and Chapman, Kimberly A. and Chien, Yin‐Hsiu and Cortès‐Saladelafont, Elisenda and De Laet, Corinne and Dobbelaere, Dries and Eysken, Francois and Gautschi, Matthias and Santer, Rene and Häberle, Johannes and Joaquín, Clara and Karall, Daniela and Lindner, Martin and Lund, Allan M. and Mühlhausen, Chris and Murphy, Elaine and Roland, Dominique and Ruiz Gomez, Angeles and Skouma, Anastasia and Grünert, Sarah C. and Wagenmakers, Margreet and Garbade, Sven F. and Kölker, Stefan and Boy, Nikolas}}, title = {{Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium}}, } @mastersthesis{mef:5274, author = {{Pintarić, Martina}}, title = {{Prirođeni poremećaji glikozilacije}}, } @mastersthesis{mef:5141, author = {{Ivanković, Katarina}}, title = {{Hipofosfatemični rahitis u djece}}, } @article{mef:4959, author = {{Petković Ramadža, Danijela and Kuhtić, Ivana and Žarković, Kamelija and Lochmüller, Hanns and Čavka, Mislav and Kovač, Ida and Barić, Ivo and Prutki, Maja}}, title = {{Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology}}, } @article{kbsplit:11, author = {{Blazekovic, Antonela and Gotovac Jercic, Kristina and Meglaj, Sarah and Duranovic, Vlasta and Prpic, Igor and Lozic, Bernarda and Malenica, Masa and Markovic, Silvana and Lujic, Lucija and Gadze, Zeljka Petelin and Juraski, Romana Gjergja and Barisic, Nina and Baric, Ivo and Borovecki, Fran}}, title = {{Genetics of Pediatric Epilepsy : Next-Generation Sequencing in Clinical Practice}}, } @article{mef:4488, author = {{Lenz, Dominic and Pahl, Jens and Hauck, Fabian and Alameer, Seham and Balasubramanian, Meena and Barić, Ivo and Boy, Nikolas and Church, Joseph A. and Crushell, Ellen and Dick, Anke and Distelmaier, Felix and Gujar, Jidnyasa and Indolfi, Giuseppe and Lurz, Eberhard and Peters, Bianca and Schwerd, Tobias and Serranti, Daniele and Kölker, Stefan and Klein, Christoph and Hoffmann, Georg F. and Prokisch, Holger and Greil, Johann and Cerwenka, Adelheid and Giese, Thomas and Staufner, Christian}}, title = {{NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency}}, } @mastersthesis{mef:3947, author = {{Alaber, Maja}}, title = {{Kvaliteta života pacijenata s fenilketonurijom u Hrvatskoj}}, } @mastersthesis{mef:4138, author = {{Jelovčić, Fabijan}}, title = {{Porodična hiperkolesterolemija u djece}}, } @article{mef:3803, author = {{Žigman, Tamara and Petković Ramadža, Danijela and Šimić, Goran and Barić, Ivo}}, title = {{Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention}}, } @mastersthesis{mef:3537, author = {{Šmaguc, Ana}}, title = {{Dijagnostički izazovi, klinička slika i tijek klasične galaktozemije}}, } @mastersthesis{mef:3615, author = {{Smajo, Ana}}, title = {{Hipofosfatazija u djece}}, } @article{mef:2656, author = {{Staufner, Christian and Peters, Bianca and Wagner, Matias and Alameer, Seham and Barić, Ivo and Broué, Pierre and Bulut, Derya and Church, Joseph A. and Crushell, Ellen and Dalgıç, Buket and Das, Anibh M. and Dick, Anke and Dikow, Nicola and Dionisi-Vici, Carlo and Distelmaier, Felix and Bozbulut, Neslihan Ekşi and Feillet, François and Gonzales, Emmanuel and Hadzic, Nedim and Hauck, Fabian and Hegarty, Robert and Hempel, Maja and Herget, Theresia and Klein, Christoph and Konstantopoulou, Vassiliki and Kopajtich, Robert and Kuster, Alice and Laass, Martin W. and Lainka, Elke and Larson-Nath, Catherine and Leibner, Alexander and Lurz, Eberhard and Mayr, Johannes A. and McKiernan, Patrick and Mention, Karine and Moog, Ute and Mungan, Neslihan Onenli and Riedhammer, Korbinian M. and Santer, René and Palafoll, Irene Valenzuela and Vockley, Jerry and Westphal, Dominik S. and Wiedemann, Arnaud and Wortmann, Saskia B. and Diwan, Gaurav D. and Russell, Robert B. and Prokisch, Holger and Garbade, Sven F. and Kölker, Stefan and Hoffmann, Georg F. and Lenz, Dominic}}, title = {{Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients}}, } @phdthesis{mef:6257, author = {{Ninković, Dorotea}}, title = {{Omjer S-adenozilmetionina i S-adenozilhomocisteina i polimorfizmi gena za S-adenozilhomocistein hidrolazu u novorođenčadi s prirođenim srčanim greškama i njihovih majki }}, } @mastersthesis{mef:2291, author = {{Mlinarić, Stella}}, title = {{Klinička i biokemijska obilježja djece s poremećajima beta-oksidacije masnih kiselina}}, } @mastersthesis{mef:2281, author = {{Marinović, Lucija}}, title = {{Loše regulirana fenilketonurija s prikazom bolesnika}}, } @mastersthesis{mef:2361, author = {{Šikić, Katarina}}, title = {{Metilmalonska acidurija}}, } @mastersthesis{mef:2464, author = {{Gatin, Neva}}, title = {{Progresivna osificirajuća fibrodisplazija}}, } @phdthesis{mef:6127, author = {{Petković Ramadža, Danijela}}, title = {{Nedostatna aktivnost S-adenozilhomocistein hidrolaze i omjer S-adenozilmetionina i S-adenozilhomocisteina u osoba s trajno povišenom aktivnošću kreatin kinaze }}, } @mastersthesis{mef:2125, author = {{Shoham, Ori Zion}}, title = {{Gaucher disease in children}}, } @mastersthesis{mef:1974, author = {{Vukšević, Tonka}}, title = {{Plućna hipertenzija u djece s prirođenim srčanim grješkama}}, } @article{mef:8700, author = {{Sakaguchi, Tomohiro and Žigman, Tamara and Petković Ramadža, Danijela and Omerza, Lana and Pušeljić, Silvija and Ereš Hrvaćanin, Zrinka and Miyake, Noriko and Matsumoto, Naomichi and Barić, Ivo}}, title = {{A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum}}, } @article{mef:8699, author = {{Lamhonwah, Anne-Marie and Barić, Ivo and Lamhonwah, Jessica and Grubić, Marina and Tein, Ingrid}}, title = {{Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)}}, } @article{mef:8703, author = {{O'Byrne, James J. and Tarailo-Graovac, Maja and Ghani, Aisha and Champion, Michael and Deshpande, Charu and Dursun, Ali and Ozgul, Riza K. and Freisinger, Peter and Garber, Ian and Haack, Tobias B. and Horvath, Rita and Barić, Ivo and Husain, Ralf A. and Kluijtmans, Leo A.J. and Kotzaeridou, Urania and Morris, Andrew A. and Ross, Colin J. and Santra, Saikat and Smeitink, Jan and Tarnopolsky, Mark and Wortmann, Saskia B. and Mayr, Johannes A. and Brunner-Krainz, Michaela and Prokisch, Holger and Wasserman, Wyeth W. and Wevers, Ron A. and Engelke, Udo F. and Rodenburg, Richard J. and Ting, Teck Wah and McFarland, Robert and Taylor, Robert W. and Salvarinova, Ramona and van Karnebeek, Clara D.M.}}, title = {{The genotypic and phenotypic spectrum of MTO1 deficiency}}, } @article{kbco:286, author = {{Sakaguchi, Tomohiro and Žigman, Tamara and Petković Ramadža, Danijela and Omerza, Lana and Pušeljić, Silvija and Ereš Hrvaćanin, Zrinka and Miyake, Noriko and Matsumoto, Naomichi and Barić, Ivo}}, title = {{A Novel PGAP3 Mutation in a Croatian boy with Brachytelephalangy and a Thin Corpus Callosum}}, } @article{mef:8197, author = {{Barić, Ivo and Staufner, Christian and Augoustides-Savvopoulou, Persephone and Chien, Yin-Hsiu and Dobbelaere, Dries and Grünert, Sarah C. and Opladen, Thomas and Petković Ramadža, Danijela and Rakić, Bojana and Wedell, Anna and Blom, Henk J.}}, title = {{Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders}}, } @mastersthesis{mef:1143, author = {{Romić, Tena Nicole}}, title = {{Etiološki pristup hipoglikemiji u djece}}, } @phdthesis{sfzg:274, author = {{Modrić, Vesna-Erika}}, title = {{Molarno incizivna hipomineralizacija u djece s intelektualnim teškoćama}}, } @article{mef:8212, author = {{Motzek, Antje and Knežević, Jelena and Switzeny, Olivier J. and Cooper, Alexis and Barić, Ivo and Belužić, Robert and Strauss, Kevin A. and Puffenberger, Erik G. and Mudd, S. Harvey and Vugrek, Oliver and Zechner, Ulrich}}, title = {{Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency}}, } @article{mef:8125, author = {{Cassis, Linda and Cortès-Saladelafont, Elisenda and Molero-Luis, Marta and Yubero, Delia and González, Maria Julieta and Herrero, Aida Ormazabal and Fons, Carme and Jou, Cristina and Sierra, Cristina and Castejon Ponce, Esperanza and Ramos, Federico and Armstrong, Judith and O’Callaghan, M. Mar and Casado, Mercedes and Montero, Raquel and Olivas, Silvia Maria Meavilla and Artuch, Rafael and Barić, Ivo and Bartoloni, Franco and Bellettato, Cinzia Maria and Bonifazi, Fedele and Ceci, Adriana and Cvitanović-Šojat, Ljerka and Dali, Christine I and D’Avanzo, Francesca and Fumić, Ksenija and Giannuzzi, Viviana and Lampe, Christina and Scarpa, Maurizio and Garcia-Cazorla, Ángels}}, title = {{Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders}}, } @mastersthesis{mef:580, author = {{Debeljak, Lucija}}, title = {{Klinička raznolikost bolesti uzrokovane nasljednim mutacijama gena za prijenosnik tiamina - 2 (ThTr2)}}, } @mastersthesis{mef:888, author = {{Levicki, Rea}}, title = {{Prenatalna kardiologija}}, } @article{mef:7987, author = {{Haack, Tobias B. and Staufner, Christian and Köpke, Marlies G. and Straub, Beate K. and Kölker, Stefan and Thiel, Christian and Freisinger, Peter and Barić, Ivo and McKiernan, Patrick J. and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Kühr, Joachim and Himbert, Urban and Taylor, Robert W. and Distelmaier, Felix and Vockley, Jerry and Ghaloul-Gonzalez, Lina and Zschocke, Johannes and Kremer, Laura S. and Graf, Elisabeth and Schwarzmayr, Thomas and Bader, Daniel M. and Gagneur, Julien and Wieland, Thomas and Terrile, Caterina and Strom, Tim M. and Meitinger, Thomas and Hoffmann, Georg F. and Prokisch, Holger}}, title = {{Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy}}, } @article{mef:8459, author = {{Petković Ramadža, Danijela and Ćuk, Mario and Zibar, Karin and Barić, Marina and Sarnavka, Vladimir and Bilić, Karmen and Fumić, Ksenija and Vuković, Jurica and Pušeljić, Silvija and Ćorić, Marijana and Štern Padovan, Ranka and Kralik, Marko and Barić, Ivo}}, title = {{Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogućnost enzimskoga nadomjesnog liječenja }}, } @mastersthesis{mef:347, author = {{Ćaćić, Ivana Marija}}, title = {{Neonatal liver failure}}, } @mastersthesis{mef:104, author = {{Kresina, Barbara}}, title = {{Oblici kardiomiopatija u djece}}, } @phdthesis{mef:5797, author = {{Ćuk, Mario}}, title = {{Utjecaj nedostatne aktivnosti S-adenozilhomocistein hidrolaze na metilaciju proteina }}, } @article{mef:7763, author = {{Martinac, Iva and Bogović, Marko and Batinica, Stipe and Sarnavka, Vladimir and Huljev Frković, Sanda and Matić, Toni and Jakić-Razumović, Jasminka and Rubin, Otmar and Luetić, Tomislav and Kušec, Vesna and Petković Ramadža, Danijela and Begović, Davor and Benjak, Vesna and Dasović-Buljević, Andrea and Antabak, Anko and Ćavar, Stanko and Kukin, Dijana and Sršen-Medančić, Suzana and Barić, Ivo}}, title = {{Kongenitalni hiperinzulinizam - novosti o nastanku, dijagnosticiranju i liječenju bolesti }}, } @article{mef:7445, author = {{Muačević-Katanec, Diana and Kekez, Tihomir and Fumić, Ksenija and Barić, Ivo and Merkler, Marijan and Jakić-Razumović, Jasminka and Krznarić, Željko and Zadro, Renata and Katanec, Davor and Reiner, Željko}}, title = {{Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations }}, } @article{kbco:287, author = {{Juras, Karin and Fumić, Ksenija and Ižaković, Senka and Pušeljić, Silvija and Čulić, Vida and Galić, Slobodan and Dasović Buljević, Andrea and Benjak, Vesna and Čolić, Ana and Huljev Frković, Sanda and Maradin, Miljenka and Sarnavka, Vladimir and Bilić, Karmen and Baumgartner, Matthias and Barić, Ivo}}, title = {{Manjak vitamina b12 u djece – podcijenjena opasnost u svjetlu novih spoznaja}}, } @article{mef:9258, author = {{Huljev Frković, Sanda and Tonković Đurišević, Ivana and Lasan Trčić, Ružica and Sarnavka, Vladimir and Crkvenac Gornik, Kristina and Mužinić, Dubravka and Letica, Ljiljana and Barić, Ivo and Begović, Davor}}, title = {{Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation}}, } @article{mef:9225, author = {{Petković Ramadža, Danijela and Stipoljev, Feodora and Sarnavka, Vladimir and Begović, Davor and Potočki, Kristina and Fumić, Ksenija and Mornet, Etienne and Barić, Ivo}}, title = {{Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene}}, } @article{mef:7425, author = {{Maradin, Miljenka and Fumić, Ksenija and Hansikova, H. and Tesarova, M. and Wenchich, L. and Dorner, Sanja and Sarnavka, Vladimir and Zeman, J. and Barić, Ivo}}, title = {{Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations}}, }