article_metadata: Megumi Tsuji Noriko Aida Takayuki Obata Moyoko Tomiyasu Noritaka Furuya Kenji Kurosawa Abdellatif Errami K Michael Gibson Gajja S Salomons Cornelis Jakobs Hitoshi Osaka
article_metadata: 10.1007/s10545-009-9022-9
article_metadata: J Inherit Metab Dis
article_metadata: 2010 Feb;33(1):85-90.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/20052547/
article_metadata: 4-Aminobutyrate Transaminase / deficiency Magnetic Resonance Spectroscopy / methods
article_metadata: 4-Aminobutyrate Transaminase / deficiency Magnetic Resonance Spectroscopy / methods Case Reports Research Support, Non-U.S. Gov't Central Nervous System / pathology Chromosomes / ultrastructure Electroencephalography / methods Family Health Female Heterozygote Humans Japan Metabolism, Inborn Errors / diagnosis Mutation, Missense Protons Time Factors Tomography, X-Ray Computed / methods Protons 4-Aminobutyrate Transaminase
article_metadata: PMC2828554
article_metadata: 20052547
article_metadata: A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy
article_metadata: 2010