Naziv |
Akcije |
Polić, Monika
Vanillaktična kiselina i vanilmandelična kiselina - novi biomarkeri u dijagnostici manjka aktivnosti dekarboksilaze aromatskih L-aminokiselina / Fumić, Ksenija (mentor);
Zagreb, . 2023 |
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Šmaguc, Ana ; Petković Ramadža, Danijela ; Sarnavka, Vladimir ; Krželj, Vjekoslav ; Lozić, Bernarda ; Pušeljić, Silvija ; Rahelić, Valentina ; Mesarić, Nikola ; Grubić, Marina ; Bogdanić, Ana et al.
Iskustva s galaktozemijom u Hrvatskoj // Liječnički vjesnik : glasilo Hrvatskoga liječničkog zbora, 145 (2023), 1-2; 1-11. doi: 10.26800/LV-145-1-2-1 |
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Andrašić, Petra
Verifikacija metode za određivanje homocisteina iz suhe kapi krvi na filtarskom papiru primjenom tehnologije tandemske spektrometrije masa / Fumić, Ksenija (mentor);
Zagreb, . 2022 |
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Šikić, Katarina ; Peters, Tessa M. A. ; Marušić, Eugenija ; Čulo Čagalj, Ivana ; Petković Ramadža, Danijela ; Žigman, Tamara ; Fumić, Ksenija ; Fernandez, Esperanza ; Gevaert, Kris ; Debeljak, Željko et al.
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency // Journal of inherited metabolic disease, 45 (2022), 6; 1048-1058. doi: 10.1002/jimd.12549 |
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Dardis, A ; Michelakakis, H ; Rozenfeld, P ; Fumic, K ; Wagner, J ; Pavan, E ; Fuller, M ; Revel-Vilk, S ; Hughes, D ; Cox, T et al.
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1 // Orphanet journal of rare diseases, 17 (2022), 442, 17 |
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Koracin, Vanesa ; Mlinarić, Matej ; Barić, Ivo ; Brincat, Ian ; Djordjević, Maja ; Drole Torkar, Ana ; Fumić, Ksenija ; Kocova, Mirjana ; Milenković, Tatjana ; Moldovanu, Florentina et al.
Current status of newborn screening in Southeastern Europe // Frontiers in pediatrics, 9 (2021), 648939, 9. doi: 10.3389/fped.2021.648939 |
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Ninković, Dorotea ; Fumić, Ksenija ; Bilandžija Kuš, Iva ; Kapić, Tarik ; Križić, Ivana ; Petković Ramadža, Danijela ; Filipović-Grčić, Boris ; Benjak, Vesna ; Dasović Buljević, Andrea ; Grizelj, Ruža et al.
Methylation biomarkers S-adenosylmethionine and S-adenosylhomocysteine and methylation potential in newborns with congenital heart disease and their mothers // Archives of disease in childhood. 2021. str. A46-A46 doi: 10.1136/archdischild-2021-europaediatrics.108 |
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Petković Ramadža, Danijela ; Zekušić, Marija ; Žigman, Tamara ; Škaričić, Ana ; Bogdanić, Ana ; Mustać, Gordana ; Bošnjak-Nađ, Katarina ; Ozretić, David ; Ohno, Kousaku ; Fumić, Ksenija et al.
Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings // European journal of paediatric neurology, 32 (2021), 66-72. doi: 10.1016/j.ejpn.2021.03.013 |
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Petković Ramadža, Danijela ; Žigman, Tamara ; Grizelj, Ruža ; Ninković, Dorotea ; Omerza, Lana ; Aničić, Mirna ; Ćorić, Marijana ; Mayr, Johannes A. ; Feichtinger, René ; Wortmann, Saskia et al.
Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients // Archives of disease in childhood. 2021. str. A45-A46 doi: 10.1136/archdischild-2021-europaediatrics.107 |
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Ille, Vanja ; Petković Ramadža, Danijela ; Žigman, Tamara ; Filipović- Grčić, Boris ; Grizelj, Ruža ; Ninković, Dorotea ; Bartoniček, Dorotea ; Škaričić, Ana ; Bilandžija Kuš, Iva ; Mesarić, Nikola et al.
Hypoketotic hypoglycemia and hyperammonemia as presenting features of early onset multiple acyl- CoA dehydrogenase deficiency // Archives of disease in childhood. 2021. str. A44-A44 doi: 10.1136/archdischild-2021-europaediatrics.104 |
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