Pregled po CROSBI profilu: Ivo Barić (CROSBI Profil: 12474, MBZ: 138536)
Pronađeno 305 radova
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26.(MetabERN collaboration group) Heard, Jean-Michel; the MetabERN collaboration group; Vrinten, Charlotte; Schlander, Michael; Bellettato, Cinzia Maria; van Lingen, Corine; Scarpa, MaurizioAvailability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network // Orphanet Journal of Rare Diseases, 15 (2020), 1; 3, 10 doi:10.1186/s13023-019-1280-5 (međunarodna recenzija, članak, znanstveni)
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27.(European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group) Zielonka, Matthias; Garbade, Sven F.; Gleich, Florian; Okun, Jürgen G.; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Hoffmann, Georg F.; Kölker, Stefan; Posset, Roland; Ah Mew, Nicholas et al.From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria // Human Mutation, 41 (2020), 5; 946-960 doi:10.1002/humu.23983 (međunarodna recenzija, članak, znanstveni)
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28.(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Posset, Roland; Garbade, Sven F.; Gleich, Florian; Gropman, Andrea L.; de Lonlay, Pascale; Hoffmann, Georg F.; Garcia-Cazorla, Angeles; Nagamani, Sandesh C. S.; Baumgartner, Matthias R.; Schulze, Andreas et al.Long-term effects of medical management on growth and weight in individuals with urea cycle disorders // Scientific Reports, 10 (2020), 1; 11948, 13 doi:10.1038/s41598-020-67496-3 (međunarodna recenzija, članak, znanstveni)
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29.Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgıç, Buket et al.Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients // Genetics in Medicine, 22 (2020), 3; 610-621 doi:10.1038/s41436-019-0698-4 (međunarodna recenzija, članak, znanstveni)
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30.Žigman, Tamara; Šikić, Katarina; Petković Ramadža, Danijela; Mayr, Johannes; Wortmann, Saskia; Prokisch, Holger; Ninković, Dorotea; Dilber, Daniel; Šarić, Dalibor; Rubić, Filip et al.TP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis // Journal of pediatric endocrinology & metabolism, 34 (2020), 3; 389-393 doi:10.1515/jpem-2020-0396 (međunarodna recenzija, članak, znanstveni)
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31.(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Lund, Allan M.; Rizopoulos, Dimitris; Kölker, Stefan; Williams, Monique et al.Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment // Molecular Genetics and Metabolism, 126 (2019), 4; 397-405 doi:10.1016/j.ymgme.2019.02.003 (međunarodna recenzija, članak, znanstveni)
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32.(Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group) Posset, Roland; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Burrage, Lindsay C.; Bedoyan, Jirair K.; Wong, Derek; Berry, Gerard T.; Baumgartner, Matthias R.; Yudkoff, Marc; Zielonka, Matthias et al.Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders // Annals of Neurology, 86 (2019), 116-128 doi:10.1002/ana.25492 (međunarodna recenzija, članak, znanstveni)
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33.(MetabERN collaboration group) Heard, Jean-Michel; the MetabERN collaboration group; Bellettato, Cinzia; van Lingen, Corine; Scarpa, MaurizioResearch activity and capability in the European reference network MetabERN // Orphanet Journal of Rare Diseases, 14 (2019), 1; 119, 8 doi:10.1186/s13023-019-1091-8 (međunarodna recenzija, članak, znanstveni)
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34.Barić, IvoHitna stanja zbog nasljednih metaboličkih bolesti // Hitna medicina / Gašparović, Vladimir (ur.).
Zagreb: Medicinska naklada, 2019. str. 424-432 -
35.Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Barić, Ivo; Lund, Allan M.; Kölker, Stefan; Williams, Monique et al.Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐ cycle disorders: On the basis of information from a European multicenter registry // Journal of Inherited Metabolic Disease, 42 (2019), 6; 1162-1175 doi:10.1002/jimd.12066 (međunarodna recenzija, članak, znanstveni)
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36.Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi‐Vici, Carlo et al.Newborn screening for homocystinurias: Recent recommendations versus current practice // Journal of Inherited Metabolic Disease, 42 (2019), 1; 128-139 doi:10.1002/jimd.12034 (međunarodna recenzija, članak, znanstveni)
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37.Ninković, Dorotea; Mustapić, Željka; Bartoniček, Dorotea; Benjak, Vesna; Ćuk, Mario; Dasović Buljević, Andrea; Grčić, Boris; Fumić, Ksenija; Grizelj, Ruža; Lehman, Ivan et al.The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias // Klinische Pädiatrie, 231 (2019), 02; 74-79 doi:10.1055/a-0855-4001 (međunarodna recenzija, članak, stručni)
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38.Škaričić, Ana; Zekušić, Marija; Fumić, Ksenija; Rogić, Dunja; Uroić, Valentina; Petković Ramadža, Danijela, Žigman, Tamara; Barić, IvoDiagnosis and the importance of early treatment of tyrosinemia type 1 // Clinical Mass Spectrometry, 12 (2019), 2019; 1-6 doi:10.1016/j.clinms.2019.01.005 (međunarodna recenzija, ostalo, znanstveni)
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39.Nestrasil, Igor; Nguyen, Carol; Vaneckova, Manuela; Burgetova, Andrea; Murgasova, Lenka; Zeman, Jiri; Ramadza, Danijela Petković; Baric, Ivo; Almassy, Zsuzsanna; Jurickova, Katarina et al.Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countries // WORLD Symposium 2018, San Diego, USA
San Diego (CA), Sjedinjene Američke Države: Elsevier BV, 2018. str. 105-105 doi:10.1016/j.ymgme.2017.12.277 (poster, međunarodna recenzija, sažetak, znanstveni) -
40.Petković Ramadža, DanijelaNedostatna aktivnost S-adenozilhomocistein hidrolaze i omjer S-adenozilmetionina i S- adenozilhomocisteina u osoba s trajno povišenom aktivnošću kreatin kinaze, 2018., doktorska disertacija, Medicinski fakultet, Zagreb
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41.O'Byrne, James J.; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K.; Freisinger, Peter; Garber, Ian; Haack, Tobias B. et al.The genotypic and phenotypic spectrum of MTO1 deficiency // Molecular Genetics and Metabolism, 123 (2018), 1; 28-42 doi:10.1016/j.ymgme.2017.11.003 (međunarodna recenzija, članak, znanstveni)
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42.Lamhonwah, Anne-Marie; Barić, Ivo; Lamhonwah, Jessica; Grubić, Marina; Tein, IngridAttention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449) // Clinical Case Reports, 6 (2018), 4; 585-591 doi:10.1002/ccr3.1316 (međunarodna recenzija, prikaz, znanstveni)
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43.Čogelja, Klara; Aničić, Mirna Natalija; Omerza, Lana; Tješić-Drinković , Duška; Senečić-Čala, Irena; Lehman, Ivan; Petković Ramadža, Danijela; Fumić, Ksenija; Barić, Ivo; Grizelj, Ruža et al.Od kongenitalnog ascitesa do sijalidoze tip 2. // Pediatr Croat. 2018 ; 62(Suppl 2)
Šibenik, Hrvatska, 2018. str. 157-158 (poster, domaća recenzija, sažetak, stručni) -
44.Curić Radivojevic, Renata; Barić, Ivo; Paleka Zrilić, Antonia; Kovač Bilić, Lana; Petković Ramadža, Daniela; Zigman TamaraSystemic hyalinosis and anesthesia - a case report. // Euroanaesthesia 2018 Abstract Book, European Journal of Anaesthesiology / Tramèr, Martin R. (ur.).
Kopenhagen, Danska, 2018. str. 266-266 (poster, međunarodna recenzija, sažetak, stručni) -
45.Žigman, Tamara; Petković Ramadža, Danijela; Lušić, Mario; Zekušić, Marija; Ninković, Dorotea; Gardijan, Danilo; Potočki, Kristina; Omerza, Lana; Beljan, Lucija; Žarković, Kamelija et al.Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene // Journal of Pediatric Endocrinology and Metabolism, 31 (2018), 10; 1155-1159 doi:10.1515/jpem-2017-0397 (međunarodna recenzija, članak, znanstveni)
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46.Petković Ramadža, Danijela; Sarnavka, Vladimir; Vuković, Jurica; Krželj, Vjekoslav; Lozić, Bernarda; Pušeljić, Silvija; Žigman, Tamara; Čulo Čagalj, Ivana; Pereira, Hana; Silva, Maria João et al.Galaktozemija u Republici Hrvatskoj: klinički izražaj i genotip // Paediatria Croatica. 2018 ; 62(4) / Barišić, Ingeborg (ur.).
Zagreb: Klinika za dječje bolesti Zagreb, 2018. str. 179-180 (predavanje, domaća recenzija, sažetak, znanstveni) -
47.Zekušić, Marija; Škaričić, Ana; Fumić, Ksenija; Rogić, Dunja; Žigman, Tamara; Petković Ramadža, Danijela; Vukojević, Nenad; Rüfenacht, Véronique; Uroić, Valentina; Barić, IvoMetabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene : a case report // Biochemia Medica: The journal of The Croatian Society of Medical Biochemistry and Laboratory Medicine, 28 (2018), 3; 514-522 doi:10.11613/BM.2018.030801 (međunarodna recenzija, članak, znanstveni)
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48.Bilandžija, Iva; Barić, Ivo; Škaričić, Ana; Zekušić, Marija; Križić, Ivana; Petković Ramadža, Danijela; Žigman, Tamara; Fumić, Ksenija.Program proširenog novorođenačkog probira u Republici Hrvatskoj – zahtjevi i izazovi pravilnog uzimanja suhe kapi krvi // Paediatria Croatica. Supplement, 62 (2018), 1; 10-14 (domaća recenzija, pregledni rad, stručni)
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49.Sakaguchi, Tomohiro; Žigman, Tamara; Petković Ramadža, Danijela; Omerza, Lana; Pušeljić, Silvija; Ereš Hrvaćanin, Zrinka; Miyake, Noriko; Matsumoto, Naomichi; Barić, IvoA novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum // Human genome variation, 5 (2018), 18005, 4 doi:10.1038/hgv.2018.5 (međunarodna recenzija, prikaz, stručni)
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50.Petković Ramadža*, Danijela; Sarnavka, Vladimir; Vuković, Jurica; Fumić, Ksenija; Krželj, Vjekoslav; Lozić, Bernarda; Pušeljić, Silvija; Pereira, Hana; João Silva, Maria; Tavares de Almeida, Isabel et al.Molecular basis and clinical presentation of classic galactosemia in a Croatian population. // Journal of pediatric endocrinology & metabolism, 31 (2018), 1; 71-75 doi:10.1515/jpem-2017-0302 (međunarodna recenzija, članak, znanstveni)
