Smolka V - Search Results

1

Enantioseparation of d,l-2-hydroxyglutaric acid by capillary electrophoresis with tandem mass spectrometry-Fast and efficient tool for d- and l-2-hydroxyglutaracidurias diagnosis.

Švidrnoch M, Přibylka A, Bekárek V, Ševčík J, Smolka V, Maier V. Švidrnoch M, et al. Among authors: smolka v. J Chromatogr A. 2016 Oct 7;1467:383-390. doi: 10.1016/j.chroma.2016.05.095. Epub 2016 May 27. J Chromatogr A. 2016. PMID: 27295961

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: 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

3

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.

4

[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers].

Smolka V, Bekárek V, Hlídková E, Bucil J, Mayerová D, Skopková Z, Adam T, Hrubá E, Kozich V, Buriánková L, Saligová J, Buncová M, Zeman J. Smolka V, et al. Cas Lek Cesk. 2001 Nov 22;140(23):732-5. Cas Lek Cesk. 2001. PMID: 11787236 Czech.

5

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.

6

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

Honzik T, Adamovicova M, Smolka V, Magner M, Hruba E, Zeman J. Honzik T, et al. Among authors: smolka v. Eur J Paediatr Neurol. 2010 Nov;14(6):488-95. doi: 10.1016/j.ejpn.2009.12.003. Epub 2010 Jan 20. Eur J Paediatr Neurol. 2010. PMID: 20089427

7

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T. Magner M, et al. Among authors: smolka v. Prague Med Rep. 2011;112(1):18-28. Prague Med Rep. 2011. PMID: 21470495

8

[The hepatic form of Wilson's disease in young patients].

Smolka V, Frysák Z, Kozák L, Mathonová J, Jezdinská V, Novák Z, Hrcková Y, Vrábelová S. Smolka V, et al. Vnitr Lek. 2000 Jan;46(1):24-9. Vnitr Lek. 2000. PMID: 10953660 Czech.

9

[Relation of risk factors between metabolic syndrome and nonalcoholic fatty liver disease in children and adolescents].

Smolka V, Ehrmann J Jr, Tkachyk O, Zápalka M. Smolka V, et al. Cas Lek Cesk. 2014;153(2):91-7. Cas Lek Cesk. 2014. PMID: 24797780 Czech.

10

[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: smolka v. Cas Lek Cesk. 2002 Oct 11;141(20):642-5. Cas Lek Cesk. 2002. PMID: 12515040 Czech.

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