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Last Updated: 10/31/2025
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Found 15 publications
Biochemical investigation of pathogenic missense mutations of human 4-amino butyrate aminotransferase towards the understanding of the molecular pathogenesis of GABA transaminase deficiency.
Journal: Molecular genetics and metabolism
Published: April 24, 2025
Computational Exploration of the Effects of Mutations on GABA Aminotransferase in GABA Aminotransferase Deficiency.
Journal: International journal of molecular sciences
Published: May 31, 2023
GABA transaminase deficiency. Case report and literature review.
Journal: Clinical case reports
Published: July 23, 2020
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Journal: Frontiers in neuroscience
Published: February 21, 2019
GABA Transaminase Deficiency With Survival Into Adulthood.
Journal: Journal of child neurology
Published: January 16, 2019
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.
Journal: Neurology
Published: June 03, 2018
Personalized medicine approach confirms a milder case of ABAT deficiency.
Journal: Molecular brain
Published: August 31, 2016
Phenotyping GABA transaminase deficiency: a case description and literature review.
Journal: Journal of inherited metabolic disease
Published: April 19, 2016
γ-Aminobutyric acid transaminase deficiency impairs central carbon metabolism and leads to cell wall defects during salt stress in Arabidopsis roots.
Journal: Plant, cell & environment
Published: September 25, 2012
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
Journal: Journal of inherited metabolic disease
Published: October 02, 2009
Last Updated: 10/31/2025