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
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
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
Tsuji M et al.
Journal of Inherited Metabolic Disease, 2010
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