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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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| Publicado no: | J Child Neurol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| 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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