Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711813
Reference6 articles.
1. Burlina AB, Zacchello F, Dionisi-Vici C et al (1991) New clinical phenotype of branched chain acyl-CoA oxidation defect.Lancet 338: 1522?1523.
2. Christensen E, Brandt NJ, Schmalbruch H et al (1993) Muscle cytochromec oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.J Inher Metab Dis 16: 553?556.
3. Darley-Usmar VM, Rickwood D, Wilson MT (eds) (1987) Mitochondria, a practical approach. Washington DC: IRL Press.
4. Di Donato S, Frerman FE, Rimoldi M et al (1986) Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase.Neurology 36: 957?963.
5. Frerman FE, Goodman SI (1985) Fluorimetric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts.Biochem Med 33: 38?44.
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