Poupětová H - Search Results

1

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Reková P, Dostálová G, Kemlink D, Paulasová Schwabová J, Dubská Z, Vaneckova M, Mašek M, Kodet O, Poupětová H, Mazurová S, Rajdova A, Vlckova E, Táboříková A, Fafejtová Š, Nevsimalova M, Linhart A, Tomek A. Reková P, et al. Among authors: poupetova h. J Clin Med. 2021 Aug 12;10(16):3543. doi: 10.3390/jcm10163543. J Clin Med. 2021. PMID: 34441839 Free PMC article.

2

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

Palecek T, Honzikova J, Poupetova H, Vlaskova H, Kuchynka P, Golan L, Magage S, Linhart A. Palecek T, et al. Among authors: poupetova h. J Inherit Metab Dis. 2014 May;37(3):455-60. doi: 10.1007/s10545-013-9659-2. Epub 2013 Oct 31. J Inherit Metab Dis. 2014. PMID: 24173410

3

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

4

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.

Dostalova G, Hlubocka Z, Lindner J, Hulkova H, Poupetova H, Vlaskova H, Sikora J, Linhart A, Zeman J, Magner M. Dostalova G, et al. Among authors: poupetova h. Cardiovasc Pathol. 2018 Jul-Aug;35:52-56. doi: 10.1016/j.carpath.2018.04.001. Epub 2018 Apr 12. Cardiovasc Pathol. 2018. PMID: 29800929

5

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

6

New insights in cardiac structural changes in patients with Fabry's disease.

Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudová J, Karetová D, Zeman J, Ledvinová J, Poupetová H, Elleder M, Aschermann M. Linhart A, et al. Among authors: poupetova h. Am Heart J. 2000 Jun;139(6):1101-8. doi: 10.1067/mhj.2000.105105. Am Heart J. 2000. PMID: 10827394

7

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

Merta M, Reiterova J, Ledvinova J, Poupetová H, Dobrovolny R, Rysavá R, Maixnerová D, Bultas J, Motán J, Slivkova J, Sobotova D, Smrzova J, Tesar V. Merta M, et al. Among authors: poupetova h. Nephrol Dial Transplant. 2007 Jan;22(1):179-86. doi: 10.1093/ndt/gfl528. Epub 2006 Oct 13. Nephrol Dial Transplant. 2007. PMID: 17040996

8

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P. Jahnova H, et al. Among authors: poupetova h. Orphanet J Rare Dis. 2014 Sep 19;9:140. doi: 10.1186/s13023-014-0140-6. Orphanet J Rare Dis. 2014. PMID: 25236789 Free PMC article.

9

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

10

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.

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