Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711810
Reference5 articles.
1. Gibson KM, Breuer J, Kaiser K et al (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.J Inher Metab Dis 11: 76?87
2. Gibson KM, Lee CF, Kamali V et al (1990) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.Clin Chem 36: 297?303.
3. Sweetman L (1991) Organic acid analysis. In: Hommes FA, ed.Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 143?176.
4. Wanders RJA, Schutgens RBH, Zoeter PHM (1988) 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.Clin Chim Acta 171: 95?102.
5. Wappner RS (1993) Biochemical diagnosis of genetic diseases.Pediatr Ann 22: 282?297.
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