3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference16 articles.
1. The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria;Faull;Clin Chim Acta,1976
2. 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review;Wysocki;J Inherit Metab Dis,1986
3. Amino acid metabolism;Coon;Annu Rev Biochem,1958
4. Physiological roles of ketone bodies as substrates and signals in mammalian tissues;Robinson;Physiol Rev,1980
5. 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene;Funghini;Mol Genet Metab,2001
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