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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
GABA Transaminase Deficiency With Survival Into Adulthood.
Hegde AU et al.
Journal of Child Neurology, 2019
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.
Morales-Briceño H et al.
Neurology, 2019
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.
Ichikawa K et al.
Jimd Reports, 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
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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