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...

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Bibliografske podrobnosti
izdano v:Clin Case Rep
Main Authors: Oshi, Amira, Alfaifi, Abdullah, Seidahmed, Mohammed Z., Al Hussein, Khalid, Miqdad, Abeer, Samadi, Abdelmohsin, Abdelbasit, Omar
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2021
Teme:
Case Reports
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7981681/
https://ncbi.nlm.nih.gov/pubmed/33768830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3753
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