Disorders of the Metabolism of Amino Acids and Related Compounds

Author:

Shih Vivian E.,Mandell Roseann,Milunsky Aubrey

Publisher

Springer US

Reference466 articles.

1. Amendt, B. A., Fritchman, K. N., and Rhead, W. J., 1983, Dicarboxylic aciduria (DCA) due to deficiency of the long chain acyl-CoA dehydrogenase (LCADH) reversible by addition of flavin adenine dinucleotide (FAD), Pediatr. Res. 17:206A.

2. Amendt, B., Norbeck, B., Moon, A., et al., 1984, β-oxidation defects in man: Short-, medium- and long-chain acyl CoA dehydrogenase (ADH) deficiencies, Am. J. Hum. Genet. 35:5S.

3. Applegarth, D. A., Levy, H. L., Shih, V. E., et al., 1986, Prenatal diagnosis of non-ketotic hyperglycinemia, Prenatal Diagnosis (in press).

4. Arashima, S., and Matsuda, I., 1972, A case of carbamyl phosphate synthetase deficiency, Tohoku J. Exp. Med. 107:143.

5. Bachmann, C., and Colombo, J. P., 1980, Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias, Eur. J. Pediatr. 134:109.

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