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Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Dvorakova L, Vlaskova H, Sarajlija A, Ramadza DP, Poupetova H, Hruba E, Hlavata A, Bzduch V, Peskova K, Storkanova G, Kecman B, Djordjevic M, Baric I, Fumic K, Barisic I, Reboun M, Kulhanek J, Zeman J, Magner M. Dvorakova L, et al. Among authors: peskova k. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L. Řeboun M, et al. Among authors: peskova k. Folia Biol (Praha). 2016;62(2):82-9. Folia Biol (Praha). 2016. PMID: 27187040 Free article.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Among authors: peskova k. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Janečková H, Hron K, Wojtowicz P, Hlídková E, Barešová A, Friedecký D, Zídková L, Hornik P, Behúlová D, Procházková D, Vinohradská H, Pešková K, Bruheim P, Smolka V, Sťastná S, Adam T. Janečková H, et al. Among authors: peskova k. J Chromatogr A. 2012 Feb 24;1226:11-7. doi: 10.1016/j.chroma.2011.09.074. Epub 2011 Oct 4. J Chromatogr A. 2012. PMID: 22018716
Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria.
Bártl J, Chrastina P, Krijt J, Hodík J, Pešková K, Kožich V. Bártl J, et al. Among authors: peskova k. Clin Chim Acta. 2014 Nov 1;437:211-7. doi: 10.1016/j.cca.2014.07.028. Epub 2014 Jul 31. Clin Chim Acta. 2014. PMID: 25086281 Clinical Trial.
Factors Influencing Parental Awareness about Newborn Screening.
Franková V, Dohnalová A, Pešková K, Hermánková R, O'Driscoll R, Ješina P, Kožich V. Franková V, et al. Among authors: peskova k. Int J Neonatal Screen. 2019 Sep 18;5(3):35. doi: 10.3390/ijns5030035. eCollection 2019 Sep. Int J Neonatal Screen. 2019. PMID: 33072994 Free PMC article.
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