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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: kozich v. 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.
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: kozich v. 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.
Metabolism of sulfur compounds in homocystinurias.
Kožich V, Ditrói T, Sokolová J, Křížková M, Krijt J, Ješina P, Nagy P. Kožich V, et al. Br J Pharmacol. 2019 Feb;176(4):594-606. doi: 10.1111/bph.14523. Epub 2018 Nov 25. Br J Pharmacol. 2019. PMID: 30341787 Free PMC 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: kozich v. 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.
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP. Sun S, et al. Among authors: kozich v. Genome Med. 2020 Jan 30;12(1):13. doi: 10.1186/s13073-020-0711-1. Genome Med. 2020. PMID: 32000841 Free PMC article.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, Kozich V. Svaton M, et al. Among authors: kozich v. Blood. 2020 Jun 25;135(26):2427-2431. doi: 10.1182/blood.2019003178. Blood. 2020. PMID: 32276275 Free PMC article. No abstract available.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Franková V, et al. Among authors: kozich v. Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10. Eur J Hum Genet. 2021. PMID: 33040093 Free PMC article.
161 results