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Krečak, Ivan and Gverić-Krečak, Velka and Rončević, Pavle and Bašić-Kinda, Sandra and Gulin, Josipa and Lapić, Ivana and Fumić, Ksenija and Ilić, Ivana and Horvat, Ivana and Zadro, Renata and Holik, Hrvoje and Coha, Božena and Peran, Nena and Aurer, Igor and Duraković, Nadira (2018) Serum chitotriosidase: a circulating biomarker in polycythemia vera. Hematology, 23 (10). pp. 793-802. ISSN 1607-8454
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
Pećin, Ivan and Muačević-Katanec, Diana and Šimić, Iveta and Fumić, Ksenija and Potočki, Kristina and Šućur, Nediljko and Reiner, Željko (2015) Pompeova bolest – smjernice za dijagnozu i liječenje odraslih bolesnika [Pompe disease - guidelines for diagnosis and management of adult patients]. Liječnički vjesnik, 137 (7-8). pp. 216-218. ISSN 0024-3477
Muačević-Katanec, Diana and Pećin, Ivan and Šimić, Iveta and Fumić, Ksenija and Potočki, Kristina and Šućur, Nediljko and Reiner, Željko (2015) Smjernice za liječenje mukopolisaharidoze (MPS) VI u odraslih bolesnika [Management of mucopolysaccharidosis type VI in adults]. Liječnički vjesnik, 137 (7-8). pp. 213-215. ISSN 0024-3477
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
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
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
Martin-Kleiner, Irena and Gabrilovac, Jelka and Bradvica, Mario and Vidović, Tomislav and Cerovski, Branimir and Fumić, Ksenija and Boranić, Milivoj (2006) Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Collegium Antropologicum, 30 (1). pp. 171-174. ISSN 0350-6134
