@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}}, } @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}}, } @mastersthesis{mef:4348, author = {{Podvorec, Doria}}, title = {{Hipotonično dojenče}}, } @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:3615, author = {{Smajo, Ana}}, title = {{Hipofosfatazija u djece}}, } @article{mef:8771, author = {{Malčić, Ivan and Belina, Dražen and Slišković, Anamarija and Bartoniček, Dorotea and Jelušić, Marija and Šarić, Dalibor and Petković Ramadža, Danijela and Lehman, Ivan and Jelašić, Dražen and Ferek-Petrić, Božidar and Kifer, Domagoj and Anić, Darko}}, title = {{Kardiomiopatije u djece - Današnja stajališta i naša iskustva Hrvatska retrospektivna epidemiološka studija 1988. - 2016. }}, } @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 }}, } @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{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}}, } @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 }}, } @article{kbco:289, author = {{Ramandža Petković, 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 Padovan Štern, Ranka and Kralik, Marko and Barać, Ivo}}, title = {{Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogućnost enzimskoga nadomjesnog liječenja}}, } @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: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}}, }