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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. Among authors: friedecky d. 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.
Analytical derivatization-a tool for determination of orotic acid.
Husková R, Barták P, Cáp L, Friedecký D, Adam T. Husková R, et al. Among authors: friedecky d. J Chromatogr B Analyt Technol Biomed Life Sci. 2004 Jan 25;799(2):303-9. doi: 10.1016/j.jchromb.2003.10.068. J Chromatogr B Analyt Technol Biomed Life Sci. 2004. PMID: 14670749
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: friedecky 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
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: friedecky d. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.
Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine.
Piskláková B, Friedecká J, Ivanovová E, Hlídková E, Bekárek V, Prídavok M, Kvasnička A, Adam T, Friedecký D. Piskláková B, et al. Among authors: friedecky d. Clin Chem Lab Med. 2023 May 19;61(11):2017-2027. doi: 10.1515/cclm-2023-0084. Print 2023 Oct 26. Clin Chem Lab Med. 2023. PMID: 37207286 Free article.
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Václavík J, Mádrová L, Kouřil Š, de Sousa J, Brumarová R, Janečková H, Jáčová J, Friedecký D, Knapková M, Kluijtmans LAJ, Grünert SC, Vaz FM, Janzen N, Wanders RJA, Wevers RA, Adam T. Václavík J, et al. Among authors: friedecky d. JIMD Rep. 2020 Apr 14;54(1):79-86. doi: 10.1002/jmd2.12118. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685354 Free PMC article.
87 results