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Page 1
Genetic and clinical features of patients with Gaucher disease in Hungary.
Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, Hrebicek M, Maródi L. Erdos M, et al. Among authors: dvorakova l. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):119-23. doi: 10.1016/j.bcmd.2007.02.005. Epub 2007 Mar 28. Blood Cells Mol Dis. 2007. PMID: 17395504 Clinical Trial.
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.
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
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M. Dobrovolny R, et al. Among authors: dvorakova l. J Mol Med (Berl). 2005 Aug;83(8):647-54. doi: 10.1007/s00109-005-0656-2. Epub 2005 Apr 2. J Mol Med (Berl). 2005. PMID: 15806320
143 results