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Valproic acid for myoclonic epilepsy in POLG1 carriers can be fatal

With interest we read the article by Tarka et al. about the autopsy findings of an 8-year-old female with mitochondrial disorder (MID) due to the compound heterozygous variants c.2243G>C and c.2542G>A in POLG1 [1]. The patient manifested clinically with mental retardation, developmental regression,...

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Sábháilte in:
Sonraí bibleagrafaíochta
Príomhchruthaitheoir: Josef Finsterer
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: Termedia Publishing House 2021-03-01
Sraith:Folia Neuropathologica
Ábhair:
Rochtain ar líne:https://www.termedia.pl/Valproic-acid-for-myoclonic-epilepsy-in-POLG1-carriers-can-be-fatal,20,43535,1,1.html
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