Megumi Tsuji Noriko Aida Takayuki Obata Moyoko Tomiyasu Noritaka Furuya Kenji Kurosawa Abdellatif Errami K Michael Gibson Gajja S Salomons Cornelis Jakobs Hitoshi Osaka
10.1007/s10545-009-9022-9
J Inherit Metab Dis
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CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/20052547/
4-Aminobutyrate Transaminase / deficiency Magnetic Resonance Spectroscopy / methods
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
PMC2828554
20052547
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy
2010