Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination

Author:

Treacy E.,Clow C. L.,Reade T. R.,Chitayat D.,Mamer O. A.,Scriver C. R.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. Brismar, J., Aqeel, A., Brismar, G., Coates, R.et al. Maple syrup urine disease: Findings on CT and MR scans of the brain in 10 infants.Am. J. Neuroradiol., 11 (1990) 1219–1228

2. Chuang, D. T. Molecular studies of mammalian branched-chain ketoacid dehydrogenase complexes, domain structures, expression and inborn errors.Ann. N.Y. Acad. Sci. 573 (1989) 138–154

3. Clow, C. L., Reade, T. M. and Scriver, C. R. Outcome of early and long-term management of classical maple syrup urine disease.Pediatrics 68 (1981) 856–862

4. Danner, D. J. and Elsas, L. J. Disorders of branched-chain amino acid and ketoacid metabolism. In Scriver, C. R., Beaudet, A., Sly, W. and Valle, D. (eds.)The Metabolic Basis of Inherited Disease, 6th edn., McGraw-Hill, New York, 1989, pp. 671–692

5. Fisher, C. W., Chuang, J. L., Griffin, T. A., Lau, K. S., Cox, R. P. and Chuang, D. T. Molecular phenotypes in cultured Maple Syrup Urine Disease cells. Complete E1α cDNA sequence and mRNA and subunit contents of the human branched chainα-keto acid dehydrogenase complex.J. Biol. Chem. 264 (1989) 3448–3453

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