Associated Papers
Biochemical investigation of pathogenic missense mutations of human 4-amino butyrate aminotransferase towards the understanding of the molecular pathogenesis of GABA transaminase deficiency.
Ambrosini G et al.
Molecular Genetics and Metabolism, 2025
Computational Exploration of the Effects of Mutations on GABA Aminotransferase in GABA Aminotransferase Deficiency.
Yasir M et al.
International Journal of Molecular Sciences, 2023
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
34251446 (PubMed )
Supplement: jamanetwopen-e2114155-s001.pdf
GABA Transaminase Deficiency With Survival Into Adulthood.
Hegde AU et al.
Journal of Child Neurology, 2019
Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.
Koenig MK et al.
Jimd Reports, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Kennedy AD et al.
Frontiers in Neuroscience, 2019
Personalized medicine approach confirms a milder case of ABAT deficiency.
Besse A et al.
Molecular Brain, 2016
Phenotyping GABA transaminase deficiency: a case description and literature review.
Louro P et al.
Journal of Inherited Metabolic Disease, 2016
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.
Besse A et al.
Cell Metabolism, 2015
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