The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01811496
Reference5 articles.
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2. Boujet, C., Joannard, A. and Favier, A. A case of ethylmalonic aciduria.Proc. 21st Symposium S.S.I.E.M. Lyon (1983) 55A
3. Green, A., Marshall, T. G., Bennett, M. J., Gray, R. G. F. and Pollitt, R. J. Riboflavin-responsive ethylmalonic-adipic aciduria.J. Inher. Metab. Dis. 8 (1985) 67–70
4. Mantagos, S., Genel, M. and Tanaka, K. Ethylmalonic-adipic aciduria.In vivo andin vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.J. Clin. Invest. 64 (1979) 1580–1589
5. Turnbull, D. M., Bartlett, K., Stevens, D. L., Alberti, K. G. M. M., Gibson, G. J., Johnson, M. A., McCulloch, A. J. and Sherratt, H. S. A. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.N. Engl. J. Med. 311 (1984) 1232–1236
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