Báo cáo khoa học: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
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The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is char-acterized by an abnormal organic acid profile in which there is excessiveurinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and3-hydroxyisovaleric acid. Affected individuals display variable clinicalmanifestations ranging from mildly delayed speech development to severepsychomotor retardation with neurological handicap.
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Báo cáo khoa học: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
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Báo cáo khoa học: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
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