HGPRT-Deficiency — The Molecular Basis of the Clinical Syndromes

Author:

Kelley W. N.,Searle J. G.,Wilson J. M.

Publisher

J.F. Bergmann-Verlag

Reference18 articles.

1. Seegmiller JE, Rosenbloom FM, Kelley WN (1967) An enzyme defect associated with a sexlinked human neurological disorder and excessive purine synthesis. Science 155:1682–1684

2. Kelley WN, Rosenbloom RM, Henderson JF, Seegmiller JE (1967) A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Nat Acad Sci 57:1735–1739

3. Kelley WN, Wyngaarden JB (1983) Clinical syndromes associated with hypoxanthine-guanine phosphoribosyltransferase deficiency. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (ed) Metabolic Basis of Inherited Diseases, 5th edn. McGraw-Hill, pp 1115–1143

4. Kelley WN, Greene ML, Rosenbloom FM, Henderson JF, Seegmiller JE (1969) Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med 70:155–206

5. Wilson JM, Tarr GE, Mahoney WC, Kelley WN (1982) Human hypoxanthine-guanine phosphoribosyltransferase: Complete amino acid sequence of the erythrocyte enzyme. J Biol Chem 257:10978–10985

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