Condition: Gamma aminobutyric acid transaminase deficiency


rs121434578 in ABAT gene and Gamma aminobutyric acid transaminase deficiency PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 10407778 1999 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

PMID 31133775 2019 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

PMID 27903293 2016 Personalized medicine approach confirms a milder case of ABAT deficiency.

PMID 25738457 2015 The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

rs1057523345 in ABAT;TMEM186 gene and Gamma aminobutyric acid transaminase deficiency PMID 31133775 2019 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

PMID 27903293 2016 Personalized medicine approach confirms a milder case of ABAT deficiency.

rs724159991 in TMEM186;ABAT gene and Gamma aminobutyric acid transaminase deficiency PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.