Zobrazeno 1 - 10 of 423 pro vyhledávání: '"Fumić, K"'
1
Akademický článek
Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.
Autor: Mihaljević M; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia., Petković Ramadža D; Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia., Žigman T; Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia., Rako I; Department of Laboratory Diagnostics University Hospital Center Zagreb Zagreb Croatia., Galić S; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia., Matić T; Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia., Rubić F; Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia., Čulo Čagalj I; Department of Pediatrics University Hospital Centre Split and School of Medicine, University of Split Split Croatia., Mayer D; Institute of Forensic Medicine and Criminalistics, School of Medicine, University of Zagreb Zagreb Croatia., Gojević A; Department of Surgery University Hospital Center Zagreb Zagreb Croatia., Ćavar S; Department of Surgery University Hospital Center Zagreb Zagreb Croatia., Ćorić M; Department for Pathology and Cytology University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia., Achleitner MT; University Children's Hospital, Paracelsus Medical University Salzburg Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University Salzburg Austria., Fumić K; Department of Laboratory Diagnostics University Hospital Center Zagreb Zagreb Croatia., Vuković J; Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia., Barić I; Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia.
Publikováno v: JIMD reports [JIMD Rep] 2024 Aug 21; Vol. 65 (5), pp. 323-329. Date of Electronic Publication: 2024 Aug 21 (Print Publication: 2024).
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2
Akademický článek
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.
Autor: Šikić K; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia., Peters TMA; Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.; Department Human Genetics, Translational Metabolic Laboratory Radboud University Medical Center Nijmegen The Netherlands., Engelke U; Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.; Department Human Genetics, Translational Metabolic Laboratory Radboud University Medical Center Nijmegen The Netherlands., Petković Ramadža D; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia.; University of Zagreb, School of Medicine Zagreb Croatia., Žigman T; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia.; University of Zagreb, School of Medicine Zagreb Croatia., Fumić K; Department of Laboratory Diagnostics University Hospital Centre Zagreb Zagreb Croatia., Davidović M; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia., Huljev Frković S; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia.; University of Zagreb, School of Medicine Zagreb Croatia., Körmendy T; Department of Diagnostic Neuroradiology University Hospital Centre Zagreb Zagreb Croatia., Martinelli D; Division of Metabolic Diseases, Department of Paediatric Subspecialties and Liver-Kidney Transplantation Bambino Gesù Children's Hospital Rome Italy., Novelli A; Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy., Lepri FR; Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy., Wevers RA; Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.; Department Human Genetics, Translational Metabolic Laboratory Radboud University Medical Center Nijmegen The Netherlands., Barić I; Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia.; University of Zagreb, School of Medicine Zagreb Croatia.
Publikováno v: JIMD reports [JIMD Rep] 2024 Jul 19; Vol. 65 (6), pp. 361-370. Date of Electronic Publication: 2024 Jul 19 (Print Publication: 2024).
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3
Akademický článek
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.
Autor: Šimić D; Department of Laboratory Diagnostics, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Šarić A; Department of Laboratory Diagnostics, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Škaričić A; Department of Laboratory Diagnostics, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Lehman I; Department of Pediatrics, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Bunoza B; Department of Pediatrics, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Rako I; Department of Laboratory Diagnostics, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Fumić K; Department of Laboratory Diagnostics, University Hospital Center Zagreb, 10000 Zagreb, Croatia.
Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Jul 16; Vol. 10 (3). Date of Electronic Publication: 2024 Jul 16.
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4
Akademický článek
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5
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
6
Akademický článek
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.
Autor: Šikić K; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia., Peters TMA; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, Netherlands., Marušić E; Department of Pediatrics, University Hospital Center Split, Split, Croatia.; University of Split, School of Medicine, Split, Croatia., Čagalj IČ; Department of Pediatrics, University Hospital Center Split, Split, Croatia.; University of Split, School of Medicine, Split, Croatia., Ramadža DP; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.; University of Zagreb, School of Medicine, Zagreb, Croatia., Žigman T; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.; University of Zagreb, School of Medicine, Zagreb, Croatia., Fumić K; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia., Fernandez E; VIB Center for Medical Biotechnology, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Gevaert K; VIB Center for Medical Biotechnology, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Debeljak Ž; Clinical Institute of Laboratory Diagnostics, University Hospital Osijek, Osijek, Croatia.; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, Netherlands., Barić I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.; University of Zagreb, School of Medicine, Zagreb, Croatia.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1048-1058. Date of Electronic Publication: 2022 Sep 11.
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7
Akademický článek
Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.
Autor: Ramadža DP; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia., Zekušić M; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia., Žigman T; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia., Škaričić A; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia., Bogdanić A; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., Mustać G; Division of Pediatrics, Zadar General Hospital, Zadar, Croatia., Bošnjak-Nađ K; Special Hospital for Children with Neurodevelopmental and Motor Disorders, Zagreb, Croatia., Ozretić D; University of Zagreb, School of Medicine, Zagreb, Croatia; Clinical Department of Diagnostic and Interventional Radiology, University Hospital Centre Zagreb, Zagreb, Croatia., Ohno K; Tottori University, Faculty of Medicine, Yonago, Tottori, Japan., Fumić K; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia., Barić I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia. Electronic address: ibaric@kbc-zagreb.hr.
Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 May; Vol. 32, pp. 66-72. Date of Electronic Publication: 2021 Mar 31.
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8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
9
Akademický článek
Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients.
Autor: Kljajic, Marina1 (AUTHOR), Atic, Armin1 (AUTHOR), Pecin, Ivan1,2 (AUTHOR), Jelakovic, Bojan1,2 (AUTHOR), Basic-Jukic, Nikolina1,2 (AUTHOR) nbasic@kbc-zagreb.hr
Publikováno v: Journal of Clinical Medicine. Dec2024, Vol. 13 Issue 23, p7069. 11p.
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10
Akademický článek
Functional Analysis of Human GBA1 Missense Mutations in Drosophila : Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences.
Autor: Kuppuramalingam, Aparna1 (AUTHOR) aparnak@mail.tau.ac.il, Cabasso, Or1 (AUTHOR) orcaba@gmail.com, Horowitz, Mia1,2 (AUTHOR) horwitzm@tauex.tau.ac.il
Publikováno v: Cells (2073-4409). Oct2024, Vol. 13 Issue 19, p1619. 23p.
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