Šťastná S - Search Results

1

Today's view of hereditary thrombophilia.

Kvasnička J, Kovářová-Kudrnová Z, Zenáhlíková Z, Brzežková R, Šťastná S, Bobčíková P, Kvasnička T. Kvasnička J, et al. Among authors: stastna s. Vnitr Lek. 2022 Winter;68(8):488-492. doi: 10.36290/vnl.2022.105. Vnitr Lek. 2022. PMID: 36575065 English.

2

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.

Janečková H, Hron K, Wojtowicz P, Hlídková E, Barešová A, Friedecký D, Zídková L, Hornik P, Behúlová D, Procházková D, Vinohradská H, Pešková K, Bruheim P, Smolka V, Sťastná S, Adam T. Janečková H, et al. Among authors: stastna s. J Chromatogr A. 2012 Feb 24;1226:11-7. doi: 10.1016/j.chroma.2011.09.074. Epub 2011 Oct 4. J Chromatogr A. 2012. PMID: 22018716

3

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T. Skopková Z, et al. Among authors: stastna s. Ann Hum Genet. 2005 Sep;69(Pt 5):501-7. doi: 10.1111/j.1529-8817.2005.00185.x. Ann Hum Genet. 2005. PMID: 16138908

4

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

Hyanek J, Kozak L, Hrabincova E, Trnka V, Kobilkova J, Dolezal A, Soukup K, Zeman J, Stastna S, Vadurova L, Krijt J, Viletova H, Cervena M, Paterova T. Hyanek J, et al. Among authors: stastna s. Bratisl Lek Listy. 2004;105(9):291-8. Bratisl Lek Listy. 2004. PMID: 15633889

5

[Anthropologic study of women with hyperphenylalaninemia].

Dolezal A, St'astná S, Hyánek J, Zivný J. Dolezal A, et al. Ceska Gynekol. 2002 Jul;67(4):215-9. Ceska Gynekol. 2002. PMID: 12373923 Czech.

6

[Sexual life of women with hyperphenylalaninemia].

Dolezal A, St'astná S, Hyánek J, Zivný J. Dolezal A, et al. Ceska Gynekol. 2002 May;67(3):171-3. Ceska Gynekol. 2002. PMID: 12078555 Czech.

7

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.

Rudolfová J, Slovácková R, Trbusek M, Pesková K, St'astná S, Kozák L. Rudolfová J, et al. J Inherit Metab Dis. 2001 Feb;24(1):85-7. doi: 10.1023/a:1005635629149. J Inherit Metab Dis. 2001. PMID: 11286390 No abstract available.

8

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M. Kozák L, et al. Among authors: stastna s. Hum Mutat. 2000 Jul;16(1):89. doi: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10874313

9

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

Kozák L, Francová H, Fajkusová L, Pijácková A, Macku J, Stastná S, Peskovová K, Martincová O, Krijt J, Bzdúch V. Kozák L, et al. Among authors: stastna s. Hum Mutat. 2000 Feb;15(2):206. doi: 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU13>3.0.CO;2-O. Hum Mutat. 2000. PMID: 10649501

10

Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

Kozák L, Francová H, Pijácková A, Macku J, Stastná S, Peskovová K, Martincová O, Krijt J. Kozák L, et al. Among authors: stastna s. J Med Genet. 1999 Jul;36(7):576-8. J Med Genet. 1999. PMID: 10424825 Free PMC article. No abstract available.

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