Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1976 Jan;28(1):22–30.

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity

Norris R Glick, Philip J Snodgrass, Irwin A Schafer
PMCID: PMC1684908  PMID: 174426

Full text

PDF
22

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bray R. C., Ratner S. Argininosuccinase from bovine kidney: comparison of catalytic, physical, and chemical properties with the enzyme from bovine liver. Arch Biochem Biophys. 1971 Oct;146(2):531–541. doi: 10.1016/0003-9861(71)90158-5. [DOI] [PubMed] [Google Scholar]
  2. Campbell A. G., Rosenberg L. E., Snodgrass P. J., Nuzum C. T. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. N Engl J Med. 1973 Jan 4;288(1):1–6. doi: 10.1056/NEJM197301042880101. [DOI] [PubMed] [Google Scholar]
  3. Carton D., De Schrijver F., Kint J., Van Durme J., Hooft C. Argininosuccinic aciduria. Neonatal variant with rapid fatal course. Acta Paediatr Scand. 1969 Sep;58(5):528–534. doi: 10.1111/j.1651-2227.1969.tb04755.x. [DOI] [PubMed] [Google Scholar]
  4. Goodman S. I., Mace J. W., Turner B., Garrett W. J. Antenatal diagnosis of argininosuccinic aciduria. Clin Genet. 1973;4(3):236–240. doi: 10.1111/j.1399-0004.1973.tb01148.x. [DOI] [PubMed] [Google Scholar]
  5. Jacoby L. B., Littlefield J. W., Milunsky A., Shih V. E., Wilroy R. S., Jr A microassay for argininosuccinase in cultured cells. Am J Hum Genet. 1972 May;24(3):321–324. [PMC free article] [PubMed] [Google Scholar]
  6. Kint J., Carton D. Deficient argininosuccinase activity in brain in argininosuccinicaciduria. Lancet. 1968 Sep 14;2(7568):635–635. doi: 10.1016/s0140-6736(68)90724-1. [DOI] [PubMed] [Google Scholar]
  7. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  8. Levin B. Arginosuccine aciduria. Am J Dis Child. 1967 Jan;113(1):162–165. [PubMed] [Google Scholar]
  9. Miller A. L., McLean P. Urea cycle enzymes in the liver of a patient with argininosuccinic aciduria. Clin Sci. 1967 Jun;32(3):385–393. [PubMed] [Google Scholar]
  10. Nuzum C. T., Snodgrass P. J. Urea cycle enzyme adaptation to dietary protein in primates. Science. 1971 Jun 4;172(3987):1042–1043. doi: 10.1126/science.172.3987.1042. [DOI] [PubMed] [Google Scholar]
  11. Pollitt R. J. Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria. Clin Chim Acta. 1973 Jun 14;46(1):33–37. doi: 10.1016/0009-8981(73)90099-5. [DOI] [PubMed] [Google Scholar]
  12. Ratner S. Enzymes of arginine and urea synthesis. Adv Enzymol Relat Areas Mol Biol. 1973;39:1–90. doi: 10.1002/9780470122846.ch1. [DOI] [PubMed] [Google Scholar]
  13. Räihä N. C., Suihkonen J. Development of urea-synthesizing enzymes in human liver. Acta Paediatr Scand. 1968 Mar;57(2):121–124. doi: 10.1111/j.1651-2227.1968.tb04663.x. [DOI] [PubMed] [Google Scholar]
  14. SCHIMKE R. T. Adaptive characteristics of urea cycle enzymes in the rat. J Biol Chem. 1962 Feb;237:459–468. [PubMed] [Google Scholar]
  15. Short E. M., Conn H. O., Snodgrass P. J., Campbell A. G., Rosenberg L. E. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency. N Engl J Med. 1973 Jan 4;288(1):7–12. doi: 10.1056/NEJM197301042880102. [DOI] [PubMed] [Google Scholar]
  16. Solitare G. B., Shih V. E., Nelligan D. J., Dolan T. F., Jr Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations. J Ment Defic Res. 1969 Sep;13(3):153–170. doi: 10.1111/j.1365-2788.1969.tb01076.x. [DOI] [PubMed] [Google Scholar]
  17. TOMLINSON S., WESTALL R. G. ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. Clin Sci. 1964 Apr;26:261–269. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES