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GABA TRANSAMINASE DEFICIENCY WITH SURVIVAL INTO ADULTHOOD

GABA-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report two affected siblings in adolescence and adulthood, both with pr...

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Podrobná bibliografie
Vydáno v:J Child Neurol
Hlavní autoři: Hegde, Anaita U., Karnavat, Purva K., Vyas, R., DiBacco, Melissa L., Ellen Grant, P., Pearl, Phillip L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7292229/
https://ncbi.nlm.nih.gov/pubmed/30644311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073818823359
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