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Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Musalkova D, Sticova E, Reboun M, Sokolova J, Krijt J, Honzikova J, Gurka J, Neroldova M, Honzik T, Zeman J, Jirsa M, Dvorakova L, Hrebicek M. Musalkova D, et al. Among authors: dvorakova l. Virchows Arch. 2018 Jun;472(6):1029-1039. doi: 10.1007/s00428-018-2345-x. Epub 2018 Apr 6. Virchows Arch. 2018. PMID: 29623395
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. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178
Enzyme replacement therapy for Gaucher disease in twin pregnancy.
Malinová V, Poupetová H, Dvoráková L, Zeman J. Malinová V, et al. Among authors: dvorakova l. Int J Gynaecol Obstet. 2009 Jul;106(1):64-6. doi: 10.1016/j.ijgo.2009.02.014. Epub 2009 Apr 5. Int J Gynaecol Obstet. 2009. PMID: 19349046 No abstract available.
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: dvorakova l. Folia Biol (Praha). 2016;62(2):82-9. doi: 10.14712/fb2016062020082. Folia Biol (Praha). 2016. PMID: 27187040 Free article.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: dvorakova l. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.
143 results