Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Alepa F. P., Howell R. R., Klinenberg J. R., Seegmiller J. E. Relationships between glycogen storage disease and tophaceous gout. Am J Med. 1967 Jan;42(1):58–66. doi: 10.1016/0002-9343(67)90006-x. [DOI] [PubMed] [Google Scholar]
- Alvsaker J. O. Genetic studies in primary gout. Investigations on the plasma levels of the urate-binding alpha 1-alpha 2-globulin in individuals from two gouty kindreds. J Clin Invest. 1968 Jun;47(6):1254–1261. doi: 10.1172/JCI105817. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Alvsaker J. O., Seegmiller J. E. Plasma concentrations of the urate-binding alpha 1-2 -globulin in patients with different types of primary gout as compared to healthy control subjects. Eur J Clin Invest. 1972 Jan;2(2):66–71. doi: 10.1111/j.1365-2362.1972.tb00571.x. [DOI] [PubMed] [Google Scholar]
- Alvsaker J. O. Uric acid in human plasma. V. Isolation and identification of plasma proteins interacting with urate. Scand J Clin Lab Invest. 1966;18(2):227–239. doi: 10.3109/00365516609051819. [DOI] [PubMed] [Google Scholar]
- Arnold W. J., Meade J. C., Kelley W. N. Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome. J Clin Invest. 1972 Jul;51(7):1805–1812. doi: 10.1172/JCI106982. [DOI] [PMC free article] [PubMed] [Google Scholar]
- BINKLEY G. W., JOHNSON H. H., Jr Epithelioma adenoides cysticum; basal cell nevi, agenesis of the corpus callosum and dental cysts; a clinical and autopsy study. AMA Arch Derm Syphilol. 1951 Jan;63(1):73–84. doi: 10.1001/archderm.1951.01570010076006. [DOI] [PubMed] [Google Scholar]
- Bakay B., Nyhan W. L. The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet. 1971 Feb;5(1):81–90. doi: 10.1007/BF00485733. [DOI] [PubMed] [Google Scholar]
- Becker M. A., Meyer L. J., Seegmiller J. E. Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity. Am J Med. 1973 Aug;55(2):232–242. doi: 10.1016/0002-9343(73)90174-5. [DOI] [PubMed] [Google Scholar]
- Becker M. A., Meyer L. J., Wood A. W., Seegmiller J. E. Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. Science. 1973 Mar 16;179(4078):1123–1126. doi: 10.1126/science.179.4078.1123. [DOI] [PubMed] [Google Scholar]
- Boyle J. A., Greene M. L., Seegmiller J. E. Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout. Q J Med. 1971 Oct;40(160):574–575. [PubMed] [Google Scholar]
- Boyle J. A., Raivio K. O., Astrin K. H., Schulman J. D., Graf M. L., Seegmiller J. E., Jacobsen C. B. Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. Science. 1970 Aug 14;169(3946):688–689. doi: 10.1126/science.169.3946.688. [DOI] [PubMed] [Google Scholar]
- Boyle J. A., Raivio K. O., Becker M. A., Seegmiller J. E. Effects of nicotinic acid on human fibroblast purine biosynthesis. Biochim Biophys Acta. 1972 May 10;269(2):179–183. doi: 10.1016/0005-2787(72)90424-8. [DOI] [PubMed] [Google Scholar]
- Breckenridge A. Hypertension and hyperuricaemia. Proc R Soc Med. 1966 Apr;59(4):316–319. [PMC free article] [PubMed] [Google Scholar]
- CASKEY C. T., ASHTON D. M., WYNGAARDEN J. B. THE ENZYMOLOGY OF FEEDBACK INHIBITION OF GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE BY PURINE RIBONUCLEOTIDES. J Biol Chem. 1964 Aug;239:2570–2579. [PubMed] [Google Scholar]
- Carcassi A., Marcolongo R., Jr, Marinello E., Riario-Sforza G., Boggiano C. Liver xanthine oxidase in gouty patients. Arthritis Rheum. 1969 Feb;12(1):17–20. doi: 10.1002/art.1780120104. [DOI] [PubMed] [Google Scholar]
- Castro-Mendoza H. J., Cifuentes Delatte L., Rapado Errazti A. Una nueva observación de xantinuria familiar. Rev Clin Esp. 1972 Feb 29;124(4):341–352. [PubMed] [Google Scholar]
- Chalmers R. A., Johnson M., Pallis C., Watts R. W. Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease). Q J Med. 1969 Oct;38(152):493–512. [PubMed] [Google Scholar]
- Chalmers R. A., Parker R., Simmonds H. A., Snedden W., Watts R. W. The conversion of 4-hydroxypyrazolo[3,4-d]pyrimidine (allopurinol) into 4,6-dihroxypyrazolo[3,4-d]pyrimidine (Oxipurinol) in vivo in the absence of xanthine-oxen oxidoreductase. Biochem J. 1969 May;112(4):527–532. doi: 10.1042/bj1120527. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Chalmers R. A., Watts R. W. An enzymatic spectrophotometric method for the determination of "oxypurines" (hypoxanthine plus xanthine) in urine and blood plasma. Analyst. 1968 Jun;93(107):354–362. doi: 10.1039/an9689300354. [DOI] [PubMed] [Google Scholar]
- Chalmers R. A., Watts R. W., Bitensky L., Chayen J. Microscopic studies on crystals in skeletal muscle from two cases of xanthinuria. J Pathol. 1969 Sep;99(1):45–56. doi: 10.1002/path.1710990107. [DOI] [PubMed] [Google Scholar]
- Chalmers R. A., Watts R. W., Pallis C., Bitensky L., Chayen J. Crystalline deposits in striped muscle in xanthinuria. Nature. 1969 Jan 11;221(5176):170–171. doi: 10.1038/221170a0. [DOI] [PubMed] [Google Scholar]
- Chalmers R. A., Watts R. W. The separate determination of xanthine and hypoxanthine in urine and blood plasma by an enzymatic differential spectrophotometric method. Analyst. 1969 Mar;94(116):226–233. doi: 10.1039/an9699400226. [DOI] [PubMed] [Google Scholar]
- Cleaver J. E. Xeroderma pigmentosum: a human disease in which an initial stage of DNA repair is defective. Proc Natl Acad Sci U S A. 1969 Jun;63(2):428–435. doi: 10.1073/pnas.63.2.428. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Corte E. D., Stirpe F. Regulation of xanthine oxidase in rat liver: modifications of the enzyme activity of rat liver supernatant on storage at 20 degrees. Biochem J. 1968 Jun;108(2):349–351. doi: 10.1042/bj1080349. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Corte E. D., Stirpe F. The regulation of rat liver xanthine oxidase. Involvement of thiol groups in the conversion of the enzyme activity from dehydrogenase (type D) into oxidase (type O) and purification of the enzyme. Biochem J. 1972 Feb;126(3):739–745. doi: 10.1042/bj1260739. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Craft J. A., Dean B. M., Watts R. W., Westwick W. J. Studies on human erythrocyte IMP: pyrophosphate phosphoribosyltransferase. Eur J Biochem. 1970 Aug;15(2):367–373. doi: 10.1111/j.1432-1033.1970.tb01017.x. [DOI] [PubMed] [Google Scholar]
- Davison A. N., Dobbing J. Myelination as a vulnerable period in brain development. Br Med Bull. 1966 Jan;22(1):40–44. doi: 10.1093/oxfordjournals.bmb.a070434. [DOI] [PubMed] [Google Scholar]
- DeMars R., Sarto G., Felix J. S., Benke P. Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells. Science. 1969 Jun 13;164(3885):1303–1305. doi: 10.1126/science.164.3885.1303. [DOI] [PubMed] [Google Scholar]
- Delbarre F., Cartier P., Auscher C., de Géry A., Hamet M. Gouttes enzymopathiques. Dyspurinies par déficit en hypoxanthine-guanine-phosphoribosyltransférase. Fréquence et caractères cliniques de L'anenzymose. Presse Med. 1970 Mar 28;78(16):729–734. [PubMed] [Google Scholar]
- Demus A., Kaiser W., Schaub J. The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine. Z Kinderheilkd. 1973 Apr 4;114(2):119–130. doi: 10.1007/BF00440499. [DOI] [PubMed] [Google Scholar]
- EISEN A. Z., SEEGMILLER J. E. Uric acid metabolism in psoriasis. J Clin Invest. 1961 Aug;40:1486–1494. doi: 10.1172/JCI104379. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Elion G. B., Kovensky A., Hitchings G. H. Metabolic studies of allopurinol, an inhibitor of xanthine oxidase. Biochem Pharmacol. 1966 Jul;15(7):863–880. doi: 10.1016/0006-2952(66)90163-8. [DOI] [PubMed] [Google Scholar]
- Emmerson B. T., Thompson L. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency. Q J Med. 1973 Apr;42(166):423–440. [PubMed] [Google Scholar]
- Epstein W. L., Fukuyama K., Epstein J. H. Early effects of ultraviolet light on DNA synthesis in human skin in vivo. Arch Dermatol. 1969 Jul;100(1):84–89. [PubMed] [Google Scholar]
- Fox I. H., Kelley W. N. Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism. 1972 Aug;21(8):713–721. doi: 10.1016/0026-0495(72)90120-5. [DOI] [PubMed] [Google Scholar]
- Fox I. H., Meade J. C., Kelley W. N. Adenine phosphoribosyltransferase deficiency in man. Report of a second family. Am J Med. 1973 Nov;55(5):614–620. doi: 10.1016/0002-9343(73)90183-6. [DOI] [PubMed] [Google Scholar]
- Fox I. H., Wyngaarden J. B., Kelley W. N. Depletion of erythrocyte phosphoribosylpyrophosphate in man. N Engl J Med. 1970 Nov 26;283(22):1177–1182. doi: 10.1056/NEJM197011262832201. [DOI] [PubMed] [Google Scholar]
- Francke U., Bakay B., Nyhan W. L. Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr. 1973 Mar;82(3):472–478. doi: 10.1016/s0022-3476(73)80123-4. [DOI] [PubMed] [Google Scholar]
- Frayha R. A., Salti I. S., Abu Haidar G. I., al-Khalidi U., Hemady K. Hereditary xanthinuria and xanthine urolithiasis: an additional 3 cases. J Urol. 1973 May;109(5):871–873. doi: 10.1016/s0022-5347(17)60568-8. [DOI] [PubMed] [Google Scholar]
- Fujimoto W. Y., Seegmiller J. E., Uhlendorf B. W., Jacobson C. B. Biochemical diagnosis of an X-linked disease in utero. Lancet. 1968 Aug 31;2(7566):511–512. doi: 10.1016/s0140-6736(68)90671-5. [DOI] [PubMed] [Google Scholar]
- GOLDFINGER S., KLINENBERG J. R., SEEGMILLER J. E. THE RENAL EXCRETION OF OXYPURINES. J Clin Invest. 1965 Apr;44:623–628. doi: 10.1172/JCI105175. [DOI] [PMC free article] [PubMed] [Google Scholar]
- GUTMAN A. B., YU T. F. Renal function in gout; with a commentary on the renal regulation of urate excretion, and the role of the kidney in the pathogenesis of gout. Am J Med. 1957 Oct;23(4):600–622. doi: 10.1016/0002-9343(57)90231-0. [DOI] [PubMed] [Google Scholar]
- Gartler S. M., Scott R. C., Goldstein J. L., Campbell B. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. Science. 1971 May 7;172(3983):572–574. doi: 10.1126/science.172.3983.572. [DOI] [PubMed] [Google Scholar]
- German J. Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet. 1969 Mar;21(2):196–227. [PMC free article] [PubMed] [Google Scholar]
- Greene M. L., Fujimoto W. Y., Seegmiller J. E. Urinary xanthine stones--a rare complications of allopurinol therapy. N Engl J Med. 1969 Feb 20;280(8):426–427. doi: 10.1056/NEJM196902202800806. [DOI] [PubMed] [Google Scholar]
- Gutensohn W., Guroff G. Hypoxanthine-guanine-phosphoribosyl-transferase from rat brain (purification, kinetic properties, development and distribution). J Neurochem. 1972 Sep;19(9):2139–2150. doi: 10.1111/j.1471-4159.1972.tb05123.x. [DOI] [PubMed] [Google Scholar]
- Gutman A. B., Yü T. F. Uric acid nephrolithiasis. Am J Med. 1968 Nov;45(5):756–779. doi: 10.1016/0002-9343(68)90209-x. [DOI] [PubMed] [Google Scholar]
- HENDERSON J. F., KHOO M. K. SYNTHESIS OF 5-PHOSPHORIBOSYL 1-PYROPHOSPHATE FROM RIBONUCLEOSIDES IN EHRLICH ASCITES TUMOR CELLS IN VITRO. J Biol Chem. 1965 Jun;240:2363–2366. [PubMed] [Google Scholar]
- Hershko A., Hershko C., Mager J. Increased formation of 5-phosphoriboxyl-1-pyrophosphate in red blood cells of some gouty patients. Isr J Med Sci. 1968 Sep-Oct;4(5):939–944. [PubMed] [Google Scholar]
- Holmes E. W., McDonald J. A., McCord J. M., Wyngaarden J. B., Kelley W. N. Human glutamine phosphoribosylpyrophosphate amidotransferase. Kinetic and regulatory properties. J Biol Chem. 1973 Jan 10;248(1):144–150. [PubMed] [Google Scholar]
- Hooft C., Van Nevel C., De Schaepdryver A. F. Hyperuricosuric encephalopathy without hyperuricaemia. Arch Dis Child. 1968 Dec;43(232):734–737. doi: 10.1136/adc.43.232.734. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jakovcic S., Sorensen L. B. Studies of uric acid metabolism in glycogen storage disease associated with gouty arthritis. Arthritis Rheum. 1967 Apr;10(2):129–134. doi: 10.1002/art.1780100207. [DOI] [PubMed] [Google Scholar]
- Johns D. G., Spector T., Robins R. K. Studies on the mode of oxidation of pyrazolo(3,4-d)pyrimidine by aldehyde oxidase and xanthine oxidase. Biochem Pharmacol. 1969 Oct;18(10):2371–2383. doi: 10.1016/0006-2952(69)90352-9. [DOI] [PubMed] [Google Scholar]
- Kelley W. N., Fox I. H., Wyngaarden J. B. Regulation of purine biosynthesis in cultured human cells. I. Effects of orotic acid. Biochim Biophys Acta. 1970 Sep 22;215(3):512–516. doi: 10.1016/0304-4165(70)90101-7. [DOI] [PubMed] [Google Scholar]
- Kelley W. N., Greene M. L., Rosenbloom F. M., Henderson J. F., Seegmiller J. E. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med. 1969 Jan;70(1):155–206. doi: 10.7326/0003-4819-70-1-155. [DOI] [PubMed] [Google Scholar]
- Kelley W. N., Levy R. I., Rosenbloom F. M., Henderson J. F., Seegmiller J. E. Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest. 1968 Oct;47(10):2281–2289. doi: 10.1172/JCI105913. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kelley W. N., Meade J. C. Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity. J Biol Chem. 1971 May 10;246(9):2953–2958. [PubMed] [Google Scholar]
- Kelley W. N., Rosenbloom F. M., Seegmiller J. E., Howell R. R. Excessive production of uric acid in type I glycogen storage disease. J Pediatr. 1968 Apr;72(4):488–496. doi: 10.1016/s0022-3476(68)80339-7. [DOI] [PubMed] [Google Scholar]
- Klinenberg J. R., Kippen I. The binding of urate to plasma proteins determined by means of equilibrium dialysis. J Lab Clin Med. 1970 Mar;75(3):503–510. [PubMed] [Google Scholar]
- Kramp R. A., Lassiter W. E., Gottschalk C. W. Urate-2-14C transport in the rat nephron. J Clin Invest. 1971 Jan;50(1):35–48. doi: 10.1172/JCI106482. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Long W. K. Glutathione reductase in red blood cells: variant associated with gout. Science. 1967 Feb 10;155(3763):712–713. doi: 10.1126/science.155.3763.712. [DOI] [PubMed] [Google Scholar]
- McDonald J. A., Kelley W. N. Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme. Science. 1971 Feb 19;171(3972):689–691. doi: 10.1126/science.171.3972.689. [DOI] [PubMed] [Google Scholar]
- McKeran R. O., Howell A., Andrews T. M., Watts R. W., Arlett C. F. Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for "complete" and "partial" hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of brain damage in the Lesch-Nyhan syndrome. J Neurol Sci. 1974 Jun;22(2):183–195. doi: 10.1016/0022-510x(74)90245-7. [DOI] [PubMed] [Google Scholar]
- Milne M. D. Urate excretion. Proc R Soc Med. 1966 Apr;59(4):308–310. [PMC free article] [PubMed] [Google Scholar]
- Murray A. W. The biological significance of purine salvage. Annu Rev Biochem. 1971;40:811–826. doi: 10.1146/annurev.bi.40.070171.004115. [DOI] [PubMed] [Google Scholar]
- Mäenpä P. H., Raivio K. O., Kekomäki M. P. Liver adenine nucleotides: fructose-induced depletion and its effect on protein synthesis. Science. 1968 Sep 20;161(3847):1253–1254. doi: 10.1126/science.161.3847.1253. [DOI] [PubMed] [Google Scholar]
- NASRALLAH S., AL-KHALIDI U. NATURE OF PURINES EXCRETED IN URINE DURING MUSCULAR EXERCISE. J Appl Physiol. 1964 Mar;19:246–248. doi: 10.1152/jappl.1964.19.2.246. [DOI] [PubMed] [Google Scholar]
- Nyhan W. L., Bakay B., Connor J. D., Marks J. F., Keele D. K. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A. 1970 Jan;65(1):214–218. doi: 10.1073/pnas.65.1.214. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nyhan W. L., James J. A., Teberg A. J., Sweetman L., Nelson L. G. A new disorder of purine metabolism with behavioral manifestations. J Pediatr. 1969 Jan;74(1):20–27. doi: 10.1016/s0022-3476(69)80004-1. [DOI] [PubMed] [Google Scholar]
- Nyhan W. L. The Lesch-Nyhan syndrome. Annu Rev Med. 1973;24:41–60. doi: 10.1146/annurev.me.24.020173.000353. [DOI] [PubMed] [Google Scholar]
- PRAETORIUS E., KIRK J. E. Hypouricemia: with evidence for tubular elimination of uric acid. J Lab Clin Med. 1950 Jun;35(6):865–868. [PubMed] [Google Scholar]
- Parker R., Snedden W., Watts R. W. The quantitative determination of hypoxanthine and xanthine ("oxypurines") in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria). Biochem J. 1970 Jan;116(2):317–318. doi: 10.1042/bj1160317. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Prker R., Snedden W., Watts R. W. The mass-spectrometirc identification of hypoxanthine and xanthine ('oxypurines') in skeletal musce from two patients with congenital xanthine oxidase deficiency (xanthinuria). Biochem J. 1969 Oct;115(1):103–108. doi: 10.1042/bj1150103. [DOI] [PMC free article] [PubMed] [Google Scholar]
- RAJAGOPALAN K. V., FRIDOVICH I., HANDLER P. Hepatic aldehyde oxidase. I. Purification and properties. J Biol Chem. 1962 Mar;237:922–928. [PubMed] [Google Scholar]
- Reem G. H. De novo purine biosynthesis by two pathways in Burkitt lymphoma cells and in human spleen. J Clin Invest. 1972 May;51(5):1058–1062. doi: 10.1172/JCI106897. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Regan J. D., Setlow R. B., Kaback M. M., Howell R. R., Klein E., Burgess G. Xeroderma pigmentosum: a rapid sensitive method for prenatal diagnosis. Science. 1971 Oct 8;174(4005):147–150. doi: 10.1126/science.174.4005.147. [DOI] [PubMed] [Google Scholar]
- Riario-Sforza G., Carcassi A., Bayeli P. F., Marcolongo R., Marinello E., Montagnani M. Attività xantina-ossidasica nella mucosa digiunale di soggetti gottosi. Boll Soc Ital Biol Sper. 1969 Jun 30;45(12):785–786. [PubMed] [Google Scholar]
- Rieselbach R. E., Sorensen L. B., Shelp W. D., Steele T. H. Diminished renal urate secretion per nephron as a basis for primary gout. Ann Intern Med. 1970 Sep;73(3):359–366. doi: 10.7326/0003-4819-73-3-359. [DOI] [PubMed] [Google Scholar]
- Rowe P. B., Coleman M. D., Wyngaarden J. B. Glutamine phosphoribosylpyrophosphate amidotransferase. Catalytic and conformational heterogeneity of the pigeon liver enzyme. Biochemistry. 1970 Mar 31;9(7):1498–1505. doi: 10.1021/bi00809a004. [DOI] [PubMed] [Google Scholar]
- Rowe P. B., Wyngaarden J. B. Glutamine phosphoribosylpyrophosphate amidotransferase. Purification, substructure, amino acid composition, and absorption spectra. J Biol Chem. 1968 Dec 25;243(24):6373–6383. [PubMed] [Google Scholar]
- SCOTT J. T., DIXON A. S., BYWATERS E. G. ASSOCIATION OF HYPERURICAEMIA AND GOUT WITH HYPERPARATHYROIDISM. Br Med J. 1964 Apr 25;1(5390):1070–1073. doi: 10.1136/bmj.1.5390.1070. [DOI] [PMC free article] [PubMed] [Google Scholar]
- SEEGMILLER J. E., GRAYZEL A. I., LASTER L., LIDDLE L. Uric acid production in gout. J Clin Invest. 1961 Jul;40:1304–1314. doi: 10.1172/JCI104360. [DOI] [PMC free article] [PubMed] [Google Scholar]
- STETTEN M. R., TAFT H. L. METABOLISM OF INORGANIC PYROPHOSPHATE. II. THE PROBABLE IDENTITY OF MICROSOMAL INORGANIC PYROPHOSPHATASE, PYROPHOSPHATE PHOSPHOTRANSFERASE, AND GLUCOSE 6-PHOSPHATASE. J Biol Chem. 1964 Dec;239:4041–4046. [PubMed] [Google Scholar]
- Seegmiller J. E., Frazier P. D. Biochemical considerations of the renal damage of gout. Ann Rheum Dis. 1966 Nov;25(6 Suppl):668–672. doi: 10.1136/ard.25.suppl_6.668. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Seegmiller J. E., Grayzel A. I., Howell R. R., Plato C. THE RENAL EXCRETION OF URIC ACID IN GOUT. J Clin Invest. 1962 May;41(5):1094–1098. doi: 10.1172/JCI104560. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Seegmiller J. E. Lesch-Nyhan syndrome. Management and treatment. Fed Proc. 1968 Jul-Aug;27(4):1097–1104. [PubMed] [Google Scholar]
- Seegmiller J. E., Rosenbloom F. M., Kelley W. N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967 Mar 31;155(3770):1682–1684. doi: 10.1126/science.155.3770.1682. [DOI] [PubMed] [Google Scholar]
- Silvers D. N., Cox R. P., Balis M. E., Dancis J. Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis. N Engl J Med. 1972 Feb 24;286(8):390–395. doi: 10.1056/NEJM197202242860802. [DOI] [PubMed] [Google Scholar]
- Sperling O., Eilam G., Sara-Persky-Brosh, De Vries A. Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout. Biochem Med. 1972 Aug;6(4):310–316. doi: 10.1016/0006-2944(72)90017-8. [DOI] [PubMed] [Google Scholar]
- Sperling O., Persky-Brosh S., Boer P., De Vries A. Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties. Biochem Med. 1973 Jun;7(3):389–395. doi: 10.1016/0006-2944(73)90059-8. [DOI] [PubMed] [Google Scholar]
- Steele T. H. Control of uric acid excretion. N Engl J Med. 1971 May 27;284(21):1193–1196. doi: 10.1056/NEJM197105272842106. [DOI] [PubMed] [Google Scholar]
- Strand L. J., Felsher B. F., Redeker A. G., Marver H. S. Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity. Proc Natl Acad Sci U S A. 1970 Nov;67(3):1315–1320. doi: 10.1073/pnas.67.3.1315. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sweetman L., Nyhan W. L. Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject. Biochem Med. 1970 Sep;4(2):121–134. doi: 10.1016/0006-2944(70)90089-x. [DOI] [PubMed] [Google Scholar]
- TALBOTT J. H., TERPLAN K. L. The kidney in gout. Medicine (Baltimore) 1960 Dec;39:405–467. [PubMed] [Google Scholar]
- Watts R. W. Technical bulletin No. 31. Determination of uric acid in blood and in urine. Ann Clin Biochem. 1974 Jul;11(4):103–111. doi: 10.1177/000456327401100139. [DOI] [PubMed] [Google Scholar]
- Watts R. W. Uric acid production with particular reference to the role of xanthine oxidase and its inhibition. Proc R Soc Med. 1966 Apr;59(4):287–292. [PMC free article] [PubMed] [Google Scholar]
- Wood A. W., Seegmiller J. E. Properties of 5-phosphoribosyl-1-pyrophosphate amidotransferase from human lymphoblasts. J Biol Chem. 1973 Jan 10;248(1):138–143. [PubMed] [Google Scholar]
- YU T. F., SIROTA J. H., BERGER L., HALPERN M., GUTMAN A. B. Effect of sodium lactate infusion on urate clearance in man. Proc Soc Exp Biol Med. 1957 Dec;96(3):809–813. doi: 10.3181/00379727-96-23616. [DOI] [PubMed] [Google Scholar]
- Yü T. F., Balis M. E., Krenitsky T. A., Dancis J., Silvers D. N., Elion G. B., Gutman A. B. Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. Ann Intern Med. 1972 Feb;76(2):255–264. doi: 10.7326/0003-4819-76-2-255. [DOI] [PubMed] [Google Scholar]