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GABA transaminase deficiency. Case report and literature review
GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post‐mortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosi...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981681/ https://www.ncbi.nlm.nih.gov/pubmed/33768830 http://dx.doi.org/10.1002/ccr3.3753 |