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Aminoacylase 1 deficiency: case report on three affected siblings.
Smolka V, Friedecky D, Kolarova J, Tkacik O, Foltenova H, Bekarek V, Vrtel P, Srovnal J. Smolka V, et al. AME Case Rep. 2023 Dec 11;8:18. doi: 10.21037/acr-23-46. eCollection 2024. AME Case Rep. 2023. PMID: 38234346 Free PMC article.
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T. Rücklová K, et al. Among authors: smolka v. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.
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: smolka v. 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
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
Stehlíková K, Skálová D, Zídková J, Haberlová J, Voháňka S, Mazanec R, Mrázová L, Vondráček P, Ošlejšková H, Zámečník J, Honzík T, Zeman J, Magner M, Šišková D, Langová M, Gregor V, Godava M, Smolka V, Fajkusová L. Stehlíková K, et al. Among authors: smolka v. Clin Genet. 2017 Mar;91(3):463-469. doi: 10.1111/cge.12839. Epub 2016 Sep 26. Clin Genet. 2017. PMID: 27447704
Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
Klaskova E, Drabek J, Hobzova M, Smolka V, Seda M, Hyjanek J, Slavkovsky R, Stranska J, Prochazka M. Klaskova E, et al. Among authors: smolka v. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Dec;160(4):495-498. doi: 10.5507/bp.2016.038. Epub 2016 Aug 2. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 27485184 Free article.
Acute onset of autoimmune hepatitis in children and adolescents.
Smolka V, Tkachyk O, Ehrmann J, Karaskova E, Zapalka M, Volejnikova J. Smolka V, et al. Hepatobiliary Pancreat Dis Int. 2020 Feb;19(1):17-21. doi: 10.1016/j.hbpd.2019.08.004. Epub 2019 Aug 24. Hepatobiliary Pancreat Dis Int. 2020. PMID: 31474443
Prospective study of hypothalamo-hypophyseal dysfunction in children and adolescents following traumatic brain injury.
Krahulik D, Aleksijevic D, Smolka V, Klaskova E, Venhacova P, Vaverka M, Mihal V, Zapletalova J. Krahulik D, et al. Among authors: smolka v. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2017 Mar;161(1):80-85. doi: 10.5507/bp.2016.047. Epub 2016 Sep 19. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2017. PMID: 27646495 Free article.
33 results