References

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2. Iafolla, A.K., Thompson, R.J. & Roe, C.R. (1994) J Pediatr. 124, 409-415 Medium chain acyl-CoA-dehydrogenase deficiency: clinical course in 120 affected children.

3. Rinaldo, P. (1994) In Liver disease in Children. 295-308 Laboratory diagnosis of inborn errors of metabolism. (Suchy, FJ. ed.) Mosby, St. Louis.

4. Stanley, C.A. (1995) In Inborn Metabolic Diseases. Diagnosis and Treatment. 133-146 Disorders of fatty acid oxidation. (Fernandes, J., Saudubray, J.M. & Van den Berghe G. eds). 2nd, Ed. Springer-Verlag. Berlin.

5. Van Hove, J.L.K., Zhang, W., Kahler, S.G., Roe, C.R., Chen, Y.T., Terada, N., Chase, D., Iafolla, K., Ding, J.H. & Millington, D. (1993) Am J Hum Genet. 52, 958-66 Medium chain Acyl-CoA dehydrogenase (MCAD) deficiency: Diagnosis by acylcarnitine in blood.

6. Gregersen, N., Winter, V. & Curtis, D., et al. (1993) Hum Hered 43, 342-350 Medium Chain Acyl-CoA Dehydrogenase deficiency: Theprevalent mutation G985 (K304E) is subject to a strong founder effect from Northwestern Europe.

7. Ziadeh, R., Hoffman, E.P., Finegold, D.N., Hoop, R.C., Brackett, J.C., Strauss, A.W. & Naylor, E. (1995) Pediatr Res. 37, 675-678 Medium chain Acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unepected mutation frequencies.

8. Chace, D.H., Hillman, S.L., Van Hove, J.L.K. & Naylor, E.W. (1997) Clinical Chemistry 43, 2106-2113. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcar-nitines in newborn blood spots by tandem mass spectrometry.

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11. Millington, D.S., Terada, N., Chace, D.H., Chen, Y.T., Ding, J.H., Kodo, N. & Roe, C. (1992) In New developments in fatty acid oxidation. 339-354 The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders (Tanaka K. ed.)

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13. Costa, C.G., Dorland, L., Holwerda, U, Tavares de Almeida, I., Poll-The, W.T., Jacobs, C. & Duran, M. (1998) Clin Chem. 44, 463-471 Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid B-oxidation disorders.

14. Andresen, B.S, Bross, P. & Udvari, S. et al. (1997) Human Molecular Genetics 6, 695-707 The molecular basis of medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

15. Stanley, C.A., Hale, D.E. & Coates, P.M. et al. (1983) Pediatr Res. 17, 877 Medium chain acyl-CoA-dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.

16. Trauner, D.A. & Adams, H. (1981) Pediatr Res. 15, 1097 Intracraneal pressure elevations during octanoate infusion in rabbits: and experimental model of Reye's syndrome.

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