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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 (2018) A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. Human Genome Variation, 5. ISSN 2054-345X
Lamhonwah, Anne-Marie and Barić, Ivo and Lamhonwah, Jessica and Grubić, Marina and Tein, Ingrid (2018) Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449). Clinical Case Reports, 6 (4). pp. 585-591. ISSN 2050-0904
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. (2018) The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular Genetics and Metabolism, 123 (1). pp. 28-42. ISSN 1096-7192
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. (2017) Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. Journal of Inherited Metabolic Disease, 40 (1). pp. 5-20. ISSN 0141-8955
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 (2016) Abnormal hypermethylation at imprinting control regions in patients with S-adenosylhomocysteine hydrolase (AHCY) deficiency. PLoS ONE, 11 (3). e0151261. ISSN 1932-6203
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 (2015) Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases, 10. p. 164. ISSN 1750-1172
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 (2015) Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. American Journal of Human Genetics, 97 (1). pp. 163-169. ISSN 0002-9297
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 (2015) Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogućnost enzimskoga nadomjesnog liječenja [Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy]. Liječnički vjesnik, 137 (3-4). pp. 81-87. ISSN 0024-3477
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 (2012) Kongenitalni hiperinzulinizam - novosti o nastanku, dijagnosticiranju i liječenju bolesti [Congenital hyperinsulinism - novel insights into etiology, diagnosis and treatment]. Liječnički vjesnik, 134 (9-10). pp. 286-292. ISSN 0024-3477
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 (2011) Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations [Spontana perforacija tankog crijeva kod odraslog bolesnika s klasičnom homocistinurijom i novim mutacijama gena za cistationin-beta-sintazu]. Collegium Antropologicum, 35 (1). pp. 181-185. ISSN 0350-6134
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 (2010) Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation [Pallister Killanov sindrom: neobičan postnatalni prekomjerni rast u djevojčice s inače tipičnom kliničkom prezentacijom]. Collegium Antropologicum, 34 (1). pp. 247-50. ISSN 0350-6134
Petković Ramadža, Danijela and Stipoljev, Feodora and Sarnavka, Vladimir and Begović, Davor and Potočki, Kristina and Fumić, Ksenija and Mornet, Etienne and Barić, Ivo (2009) Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene [Hipofosfatazija: fenotipska varijabilnost i moguće hrvatsko podrijetlo c.1402g>a mutacije TNSLAP gena]. Collegium Antropologicum, 33 (4). pp. 1255-8. ISSN 0350-6134
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 (2006) Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations. Journal of Inherited Metabolic Disease, 29 (5). p. 683. ISSN 0141-8955
