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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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Detalhes bibliográficos
Publicado no:J Child Neurol
Main Authors: Hegde, Anaita U., Karnavat, Purva K., Vyas, R., DiBacco, Melissa L., Ellen Grant, P., Pearl, Phillip L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha: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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