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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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| Vydáno v: | J Child Neurol |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| 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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