Bzdúch V - Search Results

1

[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients].

Orendác M, Kozich V, Zeman J, Hyánek J, Bzdúch V, Misovicová N, Marklová E, Vad'urová L, Pijácková A. Orendác M, et al. Among authors: bzduch v. Cas Lek Cesk. 2000 Aug 16;139(16):500-7. Cas Lek Cesk. 2000. PMID: 11338767 Czech.

2

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: bzduch v. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178

3

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: bzduch v. 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

4

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P. Zahorakova D, et al. Among authors: bzduch v. J Hum Genet. 2007;52(4):342-348. doi: 10.1007/s10038-007-0121-x. Epub 2007 Feb 15. J Hum Genet. 2007. PMID: 17387578

5

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.

Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P. Bzduch V, et al. Bratisl Lek Listy. 2004;105(9):299-302. Bratisl Lek Listy. 2004. PMID: 15633890

6

[Molecular analysis of Wilson disease].

Vrábelová S, Vánová P, Kopecková L, Trunecka P, Smolka V, Procházková D, Vejvalková S, Suláková A, Kupcová V, Bzdúch V, Kozák L. Vrábelová S, et al. Among authors: bzduch v. Cas Lek Cesk. 2002 Oct 11;141(20):642-5. Cas Lek Cesk. 2002. PMID: 12515040 Czech.

7

[History of Williams syndrome].

Bzdúch V, Jariabková K. Bzdúch V, et al. Cas Lek Cesk. 2002 Oct 11;141(20):651-5. Cas Lek Cesk. 2002. PMID: 12515042 Slovak.

8

[Historical aspects of the Smith-Lemli-Opitz syndrome].

Bzdúch V, Behúlová D, Skodová J, Skokňová M, Kozák L. Bzdúch V, et al. Cas Lek Cesk. 2014;153(1):36-9. Cas Lek Cesk. 2014. PMID: 24506692 Czech.

9

TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: bzduch v. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274

10

Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.

Brucknerova I, Behulova D, Bzduch V, Mach M, Dubovicky M, Ujhazy E. Brucknerova I, et al. Among authors: bzduch v. Neuro Endocrinol Lett. 2010;31 Suppl 2:5-7. Neuro Endocrinol Lett. 2010. PMID: 21187823

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