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Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V, Poupětová H, Řeboun M, Dvořáková L, Reichmannová S, Švandová I, Murgašová L, Kasper DC, Magner M. Malinová V, et al. Among authors: poupetova h. Int J Mol Sci. 2023 Sep 22;24(19):14440. doi: 10.3390/ijms241914440. Int J Mol Sci. 2023. PMID: 37833892 Free PMC article.
Enzyme replacement therapy for Gaucher disease in twin pregnancy.
Malinová V, Poupetová H, Dvoráková L, Zeman J. Malinová V, et al. Among authors: poupetova h. 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.
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M, Sikora J, Magner M, Wiederlechnerová H, Černá A, Poupětová H, Štorkánova G, Mušálková D, Dostálová G, Goláň L, Linhart A, Dvořáková L. Řeboun M, et al. Among authors: poupetova h. Am J Med Genet A. 2022 Jul;188(7):1979-1989. doi: 10.1002/ajmg.a.62728. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338595
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: poupetova h. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178
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: poupetova h. 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.
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D, Majer F, Kuchar L, Luksan O, Asfaw B, Vlaskova H, Storkanova G, Reboun M, Poupetova H, Jahnova H, Hulkova H, Ledvinova J, Dvorakova L, Sikora J, Jirsa M, Vanier MT, Hrebicek M. Musalkova D, et al. Among authors: poupetova h. Orphanet J Rare Dis. 2020 Apr 5;15(1):85. doi: 10.1186/s13023-020-01360-5. Orphanet J Rare Dis. 2020. PMID: 32248828 Free PMC article.
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H, Poupětová H, Jirečková J, Vlášková H, Košťálová E, Mazanec R, Zumrová A, Mečíř P, Mušová Z, Magner M. Jahnová H, et al. Among authors: poupetova h. J Neurol. 2019 Aug;266(8):1953-1959. doi: 10.1007/s00415-019-09364-3. Epub 2019 May 10. J Neurol. 2019. PMID: 31076878
48 results