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Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.
Eur J Paediatr Neurol. 2011 Mar;15(2):101-8. doi: 10.1016/j.ejpn.2010.10.001. Epub 2010 Nov 12.
Eur J Paediatr Neurol. 2011.
PMID: 21075023
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.
Szentiványi K, Hansíková H, Krijt J, Vinšová K, Tesařová M, Rozsypalová E, Klement P, Zeman J, Honzík T.
Szentiványi K, et al.
Prague Med Rep. 2012;113(2):136-46. doi: 10.14712/23362936.2015.28.
Prague Med Rep. 2012.
PMID: 22691284
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Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J.
Honzik T, et al. Among authors: szentivanyi k.
J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.
J Inherit Metab Dis. 2012.
PMID: 22231385
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