Browsing by Keyword "GABA-transaminase deficiency"
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Inherited disorders of gamma-aminobutyric acid metabolism and advances inALDH5A1mutation identification
(Wiley-Blackwell, 2014)Background and Objectives Inherited disorders of GABA metabolism include SSADH and GABA-transaminase deficiencies. The clinical features, pathophysiology, diagnosis, and management of both are discussed, including an ...