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Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I. Maradin M, et al. Among authors: sarnavka v. J Inherit Metab Dis. 2006 Oct;29(5):683. doi: 10.1007/s10545-006-0321-0. Epub 2006 Aug 5. J Inherit Metab Dis. 2006. PMID: 16972175
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.
Ninković D, Mustapić Ž, Bartoniček D, Benjak V, Ćuk M, Buljević AD, Grčić BF, Fumić K, Grizelj R, Lehman I, Ramadža DP, Sarnavka V, Slaviček J, Kastelić JS, Barišić N, Barić I. Ninković D, et al. Among authors: sarnavka v. Klin Padiatr. 2019 Mar;231(2):74-79. doi: 10.1055/a-0855-4001. Epub 2019 Mar 14. Klin Padiatr. 2019. PMID: 30870873 English.
Haplotype distribution and mutations at the PAH locus in Croatia.
Barić I, Mardesić D, Gjurić G, Sarnavka V, Göbel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK. Barić I, et al. Among authors: sarnavka v. Hum Genet. 1992 Sep-Oct;90(1-2):155-7. doi: 10.1007/BF00210763. Hum Genet. 1992. PMID: 1358784
S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy.
Barić I, Cuk M, Fumić K, Vugrek O, Allen RH, Glenn B, Maradin M, Pazanin L, Pogribny I, Rados M, Sarnavka V, Schulze A, Stabler S, Wagner C, Zeisel SH, Mudd SH. Barić I, et al. Among authors: sarnavka v. J Inherit Metab Dis. 2005;28(6):885-902. doi: 10.1007/s10545-005-0192-9. J Inherit Metab Dis. 2005. PMID: 16435181 Free PMC article.
33 results