The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency
Korean IEM Workshop 1993
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Keywords
Public Health Internal Medicine Allopurinol Obligate Heterozygote
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References
- Arn PH, Hauser ER, Thomas GH, Heraman G, Hess D, Brusilow SW (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: a case of postpartum coma.N Engl J Med 322: 1652–1655.Google Scholar
- Brusilow SW, Horwich AL (1989) Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 629–663.Google Scholar
- Burlina AB, Ferrari V, Dionisi-Visi C, Bordugo A, Zacchello F, Tuchman M (1992) Allopurinol challenge test in children.J Inher Metab Dis 15: 707–712.Google Scholar
- Hauser ER, Finkelstein JE, Valle D, Brusilow SW (1990) Allopurinol-induced orotidinuria. A test for mutations at ornithine carbamoyltransferase locus in women.N Engl J Med 322: 1641–1645.Google Scholar
- Sebesta I, Fairbanks LD, Davies PM, Simmonds HA, Leonard JV 1994 The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk.Clin Chim Acta (in press).Google Scholar
Copyright information
© SSIEM and Kluwer Academic Publishers 1994