The detection of abnormal metabolites in MCAD deficiency: a new method
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799384
Reference8 articles.
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2. Duran, M., Bruinvis, L., Ketting, D., de Klerk, J. B. C. and Wadman, S. K. Cis-4-decenoic acid in plasma: a characteristic metabolite in medium chain acyl-CoA dehydrogenase deficiency.Clin. Chem. 34 (1988) 548–551
3. Kølvraa, S., Gregersen, N. and Hobolth, N. In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.Clin. Chim. Acta 126 (1982) 53–67
4. Rinaldo, P., O'Shea, J. J., Coates, P. M., Hale, D. E., Stanley, C. A. and Tanaka, K. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.N. Engl. J. Med. 319 (1988) 1308–1313
5. Rocchiccoli, J., Cartier, P. H. and Bougneres, P. F. Mass spectrometric identification of abnormal aromatic compounds in the urine of a child with Reye's like syndrome.Biomed. Mass Spectrom. 11 (1984) 127–134
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