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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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Petković Ramadža, Danijela ; Kuhtić, Ivana ; Žarković, Kamelija ; Lochmüller, Hanns ; Čavka, Mislav ; Kovač, Ida ; Barić, Ivo ; Prutki, Maja
Case 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 |
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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)00 (2022), S1098-3600(22)00; 100314, 16. doi: 10.1016/j.gim.2022.09.015 |
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Couce Pico, Maria Luz ; Baric, Ivo
Errores 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 et al. (ur.). Madrid: ERGON, 2022. str. 81-90 |
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Delin, Sanja ; Sekelj Fureš, Jadranka ; Žigman, Tamara ; Gotovac Jerčić, Kristina ; Lehman, Ivan ; Danijela Petković Ramadža ; Duranović, Vlasta ; Barić, Ivo
An Unusual Cause of Frequent Neurological Symptoms // 14th European Paediatric Neurology Society Congress, Book of abstracts. Glasgow, 2022. str. 454-454 |
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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 |
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(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 |
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(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 |
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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 |
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Barić, Ivo
Hitna stanja zbog nasljednih metaboličkih bolesti // Hitna stanja u pedijatriji / Meštrović, Julije (ur.). Zagreb: Medicinska naklada, 2022. str. 578-595 |
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