Gamma‐hydroxybutyric aciduria: A biochemist's education from a heritable disorder of GABA metabolism

Summary In keeping with the theme of the 41st Annual Symposium (Metabolic Encephalopathies), the current report provides an overview of a quarter century of research investigating a rare inborn error of GABA metabolism, succinic semialdehyde dehydrogenase (SSADH) deficiency (also referred to as gamm...

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Veröffentlicht in:	Journal of inherited metabolic disease 2005-01, Vol.28 (3), p.247-265
1. Verfasser:	Gibson, K. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	3-Hydroxybutyric Acid - pharmacology 3-Hydroxybutyric Acid - urine Aldehyde Oxidoreductases - deficiency Aldehyde Oxidoreductases - genetics Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - metabolism Animals gamma-Aminobutyric Acid - metabolism gamma-Aminobutyric Acid - pharmacology Humans Mice Succinate-Semialdehyde Dehydrogenase
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