Nejvýznamnější recentní výsledky: Marie Zikánová in PubMed
Nejvýznamnější výsledky
Zikanova M., Krijt J., Skopova V., Krijt M., Baresova V., Kmoch S. 2015. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood. Clin Biochem, 48: 2-7
Jurecka A., Zikanova M., Kmoch S., Tylki-Szymanska A. 2015. Adenylosuccinate lyase deficiency. J Inherit Metab Dis, 38: 231-42
Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymanska A. 2014. Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. Neuropediatrics 45:50-55.
Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M. 2013. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. Clin Biochem 46:1899-1901.
Duval N, Luhrs K, Wilkinson TG, 2nd, Baresova V, Skopova V, Kmoch S, Vacano GN, Zikanova M, Patterson D. 2013. Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders. Mol Genet Metab 108(3):178-89.
Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S. 2012. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum Mol Genet 21(7):1534-43.
Vliet LK, Wilkinson TG, 2nd, Duval N, Vacano G, Graham C, Zikanova M, Skopova V, Baresova V, Hnizda A, Kmoch S and others. 2011. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. Mol Genet Metab 102(1):61-8.
Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. 2010. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat 31(4):445-55.
Zidkova L, Krijt J, Sladkova J, Hlobilkova A, Magner M, Zikanova M, Kmoch S, Friedecky D, Zeman J, Elleder M and others. 2010. Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP. Mol Genet Metab 101(2-3):286-8.