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A specific enzyme defect in gout associated with overproduction of uric acid.

作者信息

Kelley W N, Rosenbloom F M, Henderson J F, Seegmiller J E

出版信息

Proc Natl Acad Sci U S A. 1967 Jun;57(6):1735-9. doi: 10.1073/pnas.57.6.1735.

DOI:10.1073/pnas.57.6.1735
PMID:4291947
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC224540/
Abstract
摘要

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A specific enzyme defect in gout associated with overproduction of uric acid.痛风中与尿酸生成过多相关的一种特定酶缺陷。
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Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.在大量痛风患者群体中X连锁部分次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症的罕见性。
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本文引用的文献

1
The metabolism of uric acid in the normal and gouty human studied with the aid of isotopic uric acid.借助同位素尿酸对正常人和痛风患者体内尿酸的代谢进行研究。
J Biol Chem. 1949 Nov;181(1):183-93.
2
Incorporation of glycine nitrogen into uric acid in normal and gouty man.正常人和痛风患者体内甘氨酸氮掺入尿酸的情况。
Metabolism. 1952 Jan;1(1):3-12.
3
The enzymatic spectrophotometric method for determination of uric acid.用于测定尿酸的酶促分光光度法。
J Lab Clin Med. 1959 Dec;54:903-13.
4
HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.年轻男性的遗传性舞蹈手足徐动症、自残行为和高尿酸血症
N Engl J Med. 1965 Jul 15;273:130-5. doi: 10.1056/NEJM196507152730303.
5
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。
Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.
6
Biochemistry of uric acid and its relation to gout.尿酸的生物化学及其与痛风的关系。
N Engl J Med. 1963 Apr 4;268:764-73 contd. doi: 10.1056/NEJM196304042681406.
7
Renal calculi preceding gouty arthritis in a child.
Am J Med. 1962 May;32:805-10. doi: 10.1016/0002-9343(62)90170-5.
8
Suppression of uric acid synthesis in the gouty human by the use of 6-diazo-5-oxo-L-norleucine.使用6-重氮-5-氧代-L-正亮氨酸对痛风患者尿酸合成的抑制作用。
J Clin Invest. 1960 Mar;39(3):447-54. doi: 10.1172/JCI104057.
9
Uric acid production in gout.痛风中的尿酸生成
J Clin Invest. 1961 Jul;40(7):1304-14. doi: 10.1172/JCI104360.
10
A microcolorimetric determination of creatine in urine by the Jaffe reaction.通过雅费反应对尿液中的肌酸进行微量比色测定。
J Biol Chem. 1954 Jun;208(2):853-61.