Abstract

1. Shil~ VE: Urea cycle disorders and other congenital hyperammonemic syndromes, in Stanbury JB, Wyngaarden JB, and Fredrickson DS, editors: The metabolic basis of inherited disease, New York, 1978, McGraw-Hill Book Company, Inc., p 362. 2. Baumgartner R, Scheidegger S, Stalder G, and Hottinger A: Neonatal death due to argininosuccinic aciduria, Helv Paediatr Acta 23:77, 1978. 3. Carton D, de Scarijver F, Kim J, van Durme J, and Hooft C: Case report. Argininosuccinic aciduria. Neonatal variant with rapid fatal course, Acta Paediatr Scand 58:528, ]969. 4. Farriaux JP, Peiraert C, and Fontaine G: Survival of infant with argininosuccinic aciduria to three months of age, J PEDIATR 86:639, 1975. (More detailed discussion of this case appears in Farriaux JP, Cartigny B, Dhondt JL, Kint J, Louis J, Delattue P, and Fontaine G: A neonatal observation of argininosuccinic aciduria, Acta Paediatr Belg 28:193, 1974.) 5. Glick NR, Snodgrass PJ, and Schafer IA: Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity, Am J Hum Genet 28:22, 1976. 6. Francois B, Cornu G, and deMeyer R: Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria, Arch Dis Child 51:228, 1976. 7. Brusilow SW, and Batshaw ML: Arginine therapy of argininosuccinase deficiency, Lancet 1:124, 1979. 8. Four other cases originally reported by Levin and Dobbs, Levin, Cusworth, and Murphey are cited in reference I; very little information is available on them. 9. Rather S, and Kunkemueller M: Separation and properties of argininosuccinate and its two anhydrides and their detection in biological materials, Biochemistry 5:1821, 1966. 10. McReynolds JW, Mantagos S, Brusilow S, and Rosenberg LE: Treatment of complete ornithine transcarbamytase deficiency with nitrogen-free analogues of essential amino acids, J PEDIATR 93:421, 1978.

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