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...

Descripción completa

Detalles Bibliográficos
Autores principales: Oshi, Amira, Alfaifi, Abdullah, Seidahmed, Mohammed Z., Al Hussein, Khalid, Miqdad, Abeer, Samadi, Abdelmohsin, Abdelbasit, Omar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
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

Internet

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

Ejemplares similares