Pregled po CROSBI profilu: Ivo Barić (CROSBI Profil: 12474, MBZ: 138536)
Pronađeno 305 radova
-
1.(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), 1-11 doi:https://.org/10.26800/LV-145-1-2-1 (recenziran, članak, znanstveni)
-
2.Petković Ramadža Danijela, Žigman Tamara, Barić IvoMetabolički moždani udar // HDDN Sinj 2022 Knijga sažetaka / Đuranović Vlasta (ur.).
Sinj, Hrvatska, 2022. str. 8-8 (predavanje, domaća recenzija, sažetak, znanstveni) -
3.Couce Pico, Maria Luz; Baric, IvoErrores congénitos del metabolismo en el periodo neonatal // Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias / Couce, Maria Luz ; Aldámiz-Echevarría, Luis ; García-Jiménez. Maria Concepcion ; González-Lamuño, Domingo (ur.).
Madrid: ERGON, 2022. str. 81-90 -
4.Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, René G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes et al.Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants // Genetics in Medicine, S1098-3600(22)00953-4 (2022), S1098-3600(22)00953-4; 100314, 16 doi:10.1016/j.gim.2022.09.015 (međunarodna recenzija, članak, znanstveni)
-
5.Delin, Sanja; Sekelj Fureš, Jadranka; Žigman, Tamara; Gotovac Jerčić, Kristina; Lehman, Ivan; Danijela Petković Ramadža; Duranović, Vlasta; Barić, IvoAn Unusual Cause of Frequent Neurological Symptoms // 14th European Paediatric Neurology Society Congress, Book of abstracts
Glasgow, 2022. str. 454-454 (poster, međunarodna recenzija, sažetak, znanstveni) -
6.Brlek, Petar; Djukić Koroljević, Zrinka; Grgurević, Ivica; Bošnjak, Jelena; Skelin, Andrea; Pavlović, Tomislav; Borić, Igor; Barić, Ivo; Primorac, DraganTWO RARE CASES OF CEREBROTENDINOUS XANTHOMATOSIS IN THE SAME FAMILY CAUSED BY AN INTRONIC MUTATION IN CYP27A1 // Journal of Bioanthropology
Dubrovnik, Hrvatska: Institut za antropologiju, 2022. str. 177-177 doi:10.54062/jb (poster, međunarodna recenzija, sažetak, znanstveni) -
7.(European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group) Scharre, Svenja; Posset, Roland; Garbade, Sven F.; Gleich, Florian; Seidl, Marie J.; Druck, Ann‐Catrin; Okun, Jürgen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Hoffmann, Georg F. et al.Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency // Annals of Clinical and Translational Neurology, 9 (2022), 11; 1715-1726 doi:10.1002/acn3.51668 (međunarodna recenzija, članak, znanstveni)
-
8.(International Congenital Hyperinsulinism Consortium) Wakeling, Matthew N.; Owens, Nick D. L.; Hopkinson, Jessica R.; Johnson, Matthew B.; Houghton, Jayne A. L.; Dastamani, Antonia; Flaxman, Christine S.; Wyatt, Rebecca C.; Hewat, Thomas I.; Hopkins, Jasmin J. et al.Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism // Nature genetics, 54 (2022), 11; 1615-1620 doi:10.1038/s41588-022-01204-x (međunarodna recenzija, članak, znanstveni)
-
9.Barić, Ivo; Kožich, Viktor; Fowler, BrianDisorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism // Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / Blau, Nenad ; Dionisi Vici, Carlo ; Ferreira, Carlos R ; Vianey-Saban, Christine ; van Karnebeek, Clara D. M. (ur.).
Izdavač ne navodi: Springer, 2022. str. 365-390 doi:10.1007/978-3-030-67727-5 -
10.Barić, IvoHitna stanja zbog nasljednih metaboličkih bolesti // Hitna stanja u pedijatriji / Meštrović, Julije (ur.).
Zagreb: Medicinska naklada, 2022. str. 578-595 -
11.Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Cortès‐ Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries et al.Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium // Journal of inherited metabolic disease, 46 (2022), 2; 220-231 doi:10.1002/jimd.12572 (međunarodna recenzija, članak, znanstveni)
-
12.Peters, Tessa M. A.; Merx, Jona; Kooijman, Pieter C.; Noga, Marek; de Boer, Siebolt; van Gemert, Loes A.; Salden, Guido; Engelke, Udo F. H.; Lefeber, Dirk J.; van Outersterp, Rianne E. et al.Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit // Journal of inherited metabolic disease, 46 (2022), 1; 66-75 doi:10.1002/jimd.12554 (međunarodna recenzija, članak, znanstveni)
-
13.Burton, Barbara K.; Sanchez, Alejandra Consuelo; Kostyleva, Maria; Martins, Ana Maria; Marulkar, Sachin; Abel, Florian; Barić, IvoLong-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency // Journal of pediatric gastroenterology and nutrition, 74 (2022), 6; 757-764 doi:10.1097/mpg.0000000000003452 (međunarodna recenzija, članak, znanstveni)
-
14.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 (međunarodna recenzija, članak, znanstveni)
-
15.Petković Ramadža, Danijela; Kuhtić, Ivana; Žarković, Kamelija; Lochmüller, Hanns; Čavka, Mislav; Kovač, Ida; Barić, Ivo; Prutki, MajaCase Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology // Frontiers in Pediatrics, 10 (2022), 1, 8 doi:10.3389/fped.2022.847445 (međunarodna recenzija, članak, znanstveni)
-
16.Blažeković, Antonela; Gotovac Jerčić, Kristina; Meglaj, Sarah; Đuranović, Vlasta; Prpić, Igor; Lozić, Bernarda; Malenica, Maša; Markovic, Silvana; Lujić, Lucija; Petelin Gadže, Željka et al.Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice // Genes, 13 (2022), 8; 1466, 10 doi:10.3390/genes13081466 (međunarodna recenzija, članak, znanstveni)
-
17.Maver, Aleš; Žigman, Tamara; Rangrez, Ashraf Yusuf; Ćorić, Marijana; Homolak, Jan; Šarić, Dalibor; Skific, Iva; Udovičić, Mario; Zekušić, Marija; Saleem, Umber et al.A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy // Cold Spring Harbor Molecular Case Studies, 8 (2022), 4; 1-23 doi:10.1101/mcs.a006221 (međunarodna recenzija, članak, znanstveni)
-
18.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 (međunarodna recenzija, kratko priopcenje, znanstveni)
-
19.Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Barić, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke et al.NBAS variants are associated with quantitative and qualitative NK and B cell deficiency // Journal of clinical immunology, 41 (2021), 8; 1781-1793 doi:10.1007/s10875-021-01110-7 (međunarodna recenzija, članak, znanstveni)
-
20.Paponja, Kristina; Rahelić, Valentina; Mesarić, Nikola; Žigman, Tamara; Škaričić, Ana; Bilandžija-Kuš, Iva; Pavić, Eva; Senečić- Čala, Irena; Peršić, Mladen; Vuković, Jurica et al.Nasljedna nepodnošljivost fruktoze – pregled literature i prikaz dvoje bolesnika // Paediatria Croatica, 65 (2021), 1; 36-42 doi:10.13112/PC.2021.6 (domaća recenzija, pregledni rad, stručni)
-
21.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, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A45-A46 doi:10.1136/archdischild-2021-europaediatrics.107 (poster, međunarodna recenzija, sažetak, znanstveni) -
22.Ninković, Dorotea; Fumić, Ksenija; Bilandžija Kuš, Iva; Kapić, Tarik; Križić, Ivana; Petković Ramadža, Danijela; Filipović-Grčić, Boris; Benjak, Vesna; Dasović Buljević, Andrea; Grizelj, Ruža; Barić, IvoMethylation biomarkers S-adenosylmethionine and S-adenosylhomocysteine and methylation potential in newborns with congenital heart disease and their mothers // Archives of disease in childhood, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A46-A46 doi:10.1136/archdischild-2021-europaediatrics.108 (poster, međunarodna recenzija, sažetak, znanstveni) -
23.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, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A44-A44 doi:10.1136/archdischild-2021-europaediatrics.104 (poster, međunarodna recenzija, sažetak, znanstveni) -
24.Žigman, Tamara; Petković Ramadža, Danijela; Šimić, Goran; Barić, IvoInborn errors of metabolism associated with autism spectrum disorders: approaches to intervention // Frontiers in neuroscience, 15 (2021), 673600, 11 doi:10.3389/fnins.2021.673600 (međunarodna recenzija, pregledni rad, stručni)
-
25.Petković Ramadža, Danijela; Zekušić, Marija; Žigman, Tamara; Škaričić, Ana; Bogdanić, Ana; Mustać, Gordana; Bošnjak-Nađ, Katarina; Ozretić, David; Ohno, Kousaku; Fumić, Ksenija; Barić, IvoEarly 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 (međunarodna recenzija, članak, znanstveni)
