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Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout.

作者信息

Sperling O, Eilam G, De Vries A

出版信息

Biochem Med. 1972 Aug;6(4):310-6. doi: 10.1016/0006-2944(72)90017-8.

DOI:10.1016/0006-2944(72)90017-8
PMID:4340256
Abstract
摘要

相似文献

1
Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout.
Biochem Med. 1972 Aug;6(4):310-6. doi: 10.1016/0006-2944(72)90017-8.
2
Increased PP-ribose-P synthetase activity: a genetic abnormality leading to excessive purine production and gout.磷酸核糖焦磷酸合成酶活性增加：一种导致嘌呤过度生成和痛风的基因异常。
Adv Exp Med Biol. 1973;41:307-15. doi: 10.1007/978-1-4684-3294-7_37.
3
Concentration and synthesis of phosphoribosylpyrophosphate in erythrocytes from normal, hyperuricemic, and gouty subjects.正常、高尿酸血症和痛风患者红细胞中磷酸核糖焦磷酸的浓度与合成
Metabolism. 1971 Aug;20(8):731-42. doi: 10.1016/s0026-0495(71)80003-3.
4
[Behavior of 5-phosphoribosyl-1-pyrophosphate (PRPP) in erythrocytes, leukocytes and lymphocytes of normal and gouty subjects].[5-磷酸核糖-1-焦磷酸（PRPP）在正常人和痛风患者红细胞、白细胞及淋巴细胞中的行为]
Reumatismo. 1975;27(1):228-34.
5
Gout with adenine phosphoribosyl transferase deficiency.
Adv Exp Med Biol. 1973;41:333-9. doi: 10.1007/978-1-4684-3294-7_40.
6
[Behavior of glutamine phosphoribosyl pyrophosphate amidotransferase in patients with primary gout].
Reumatismo. 1974 Oct-Dec;26(4):223-9.
7
Depletion of erythrocyte phosphoribosylpyrophosphate in man.人体红细胞磷酸核糖焦磷酸的消耗
N Engl J Med. 1970 Nov 26;283(22):1177-82. doi: 10.1056/NEJM197011262832201.
8
The purine revolution.
N Engl J Med. 1970 Nov 26;283(22):1221-2. doi: 10.1056/NEJM197011262832211.
9
[Clinical biochemistry of gout].
Dtsch Med J. 1969 May 27;20(10):336-41.
10
Metabolic defects of primary hyperuricemia and gout.原发性高尿酸血症和痛风的代谢缺陷
Am J Med. 1974 May;56(5):651-64. doi: 10.1016/0002-9343(74)90632-9.

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Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.全基因组序列分析鉴定出 PAX2 突变，为综合征型高尿酸血症确立了正确的诊断。
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