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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: behulova d. 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
Determination of sevoflurane and its metabolite hexafluoroisopropanol by direct injection of human plasma into gas chromatography-tandem mass spectrometry.
Kubincová J, Szabóová A, Podolec P, Blaško J, Soják L, Górová R, Addová G, Ostrovský I, Višňovský J, Amann A, Mochalski P, Höfer J, Benzer A, Behúlová D, Kubinec R. Kubincová J, et al. Among authors: behulova d. J Chromatogr A. 2012 Jan 6;1219:173-6. doi: 10.1016/j.chroma.2011.10.054. Epub 2011 Oct 28. J Chromatogr A. 2012. PMID: 22137778
Simultaneous analysis of carbohydrates, polyols and amines in urine samples using chemical ionization gas chromatography with tandem mass spectrometry.
Kubinec R, Kotora P, Ferenczy V, Blaško J, Podolec P, Hengerics Szabó A, Behúlová D, Bierhanzl V, Čabala R, Stuchlík S, Filipiak W, Thắng NM. Kubinec R, et al. Among authors: behulova d. J Sep Sci. 2018 Jan;41(2):449-458. doi: 10.1002/jssc.201700715. Epub 2017 Nov 27. J Sep Sci. 2018. PMID: 29082628
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D. Lisyová J, et al. Among authors: behulova d. BMC Med Genet. 2018 Apr 20;19(1):64. doi: 10.1186/s12881-018-0566-0. BMC Med Genet. 2018. PMID: 29678161 Free PMC article.
Glucose transporter type 1 (GLUT-1) deficiency.
Bzduch V, Sykora P, Behulova D, Kolnikova M, Klcova V. Bzduch V, et al. Among authors: behulova d. Bratisl Lek Listy. 2008;109(10):471-2. Bratisl Lek Listy. 2008. PMID: 19166137 No abstract available.
Cataract and early nystagmus due to galactokinase deficiency.
Bzduch V, Tomcikova D, Gerinec A, Behulova D. Bzduch V, et al. Among authors: behulova d. J Inherit Metab Dis. 2017 Sep;40(5):749-750. doi: 10.1007/s10545-017-0040-8. Epub 2017 Apr 20. J Inherit Metab Dis. 2017. PMID: 28429145 No abstract available.
30 results