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1
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.
J Clin Invest. 1973 Sep;52(9):2234-40. doi: 10.1172/JCI107409.
2
Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase.
Biochem Med. 1973 Oct;8(2):309-23. doi: 10.1016/0006-2944(73)90035-5.
3
Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.
Adv Exp Med Biol. 1973;41:167-75. doi: 10.1007/978-1-4684-3294-7_20.
4
Stabilization by PRPP of cellular purine phosphoribosyltransferases against inactivation by freezing and thawing. Study of normal and hypoxanthine-guanine phosphoribosyltransferase deficient human fibroblasts.
Adv Exp Med Biol. 1973;41:15-8. doi: 10.1007/978-1-4684-3294-7_2.
5
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
6
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
J Clin Invest. 1976 Feb;57(2):308-18. doi: 10.1172/JCI108282.
7
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.
Proc Natl Acad Sci U S A. 1972 Sep;69(9):2523-6. doi: 10.1073/pnas.69.9.2523.
8
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Q J Med. 1973 Apr;42(166):423-40.
9
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
Pediatr Res. 1979 Dec;13(12):1365-70. doi: 10.1203/00006450-197912000-00013.
10
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):2953-8.
引用本文的文献
1
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.
2
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22.
3
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
Hum Genet. 1984;67(1):18-22. doi: 10.1007/BF00270552.
4
Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective media.
J Inherit Metab Dis. 1985;8(4):198-203. doi: 10.1007/BF01805435.
5
Biochemical genetics of HPRT Cape Town: is the defect in the HPRT gene?
J Inherit Metab Dis. 1988;11(1):114-22. doi: 10.1007/BF01800061.
6
Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.
J Inherit Metab Dis. 1989;12(4):390-402. doi: 10.1007/BF01802034.
7
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
J Clin Invest. 1975 Nov;56(5):1239-49. doi: 10.1172/JCI108200.
8
Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.
J Clin Invest. 1976 Jun;57(6):1600-5. doi: 10.1172/JCI108430.
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Diploid azaguanine-resistant mutants of cultured human fibroblasts.
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The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism.
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Protein measurement with the Folin phenol reagent.
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A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
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PURINE NUCLEOTIDE PYROPHOSPHORYLASES IN 6-MERCAPTOPURINE-SENSITIVE AND -RESISTANT HUMAN LEUKEMIAS.
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A new supporting medium for preparative electrophoresis.
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The action of normal and atypical cholinesterase of human serum upon a series of esters of choline.
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A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers.
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Biochemical evidence for a distinct type of primary gout.
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Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
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