探寻突变型红细胞丙酮酸激酶变体的分子异常与其病理表现之间的关系。 - Suppr

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超能文献

Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression.

作者信息

Kahn A, Marie J, Vives-Corrons J L, Maigret P, Najman A

出版信息

Hum Genet. 1981;57(2):172-5. doi: 10.1007/BF00282016.

DOI:10.1007/BF00282016

PMID:7228029

Abstract

摘要

相似文献

Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression.探寻突变型红细胞丙酮酸激酶变体的分子异常与其病理表现之间的关系。

Hum Genet. 1981;57(2):172-5. doi: 10.1007/BF00282016.

[Erythrocyte pyruvate kinase deficiency: hemolytic anemia in a heterozygote].[红细胞丙酮酸激酶缺乏症：杂合子中的溶血性贫血]

Sangre (Barc). 1983;28(3):360-2.

Clinical and biochemical studies on mutant red cell enzymes mainly associated with hemolytic anemia.主要与溶血性贫血相关的突变红细胞酶的临床和生化研究。

Jinrui Idengaku Zasshi. 1980 Jun;25(2):83-92. doi: 10.1007/BF01873607.

[Erythrocyte pyruvate kinase deficiency: hemolytic anemia in single and double heterozygotes].[红细胞丙酮酸激酶缺乏症：单杂合子和双杂合子中的溶血性贫血]

Sangre (Barc). 1982;27(6):1073-8.

Hematologically important mutations: red cell pyruvate kinase.血液学重要突变：红细胞丙酮酸激酶

Blood Cells Mol Dis. 1996;22(1):85-9. doi: 10.1006/bcmd.1996.0012.

Biochemical characterization of three mutant isozymes of erythrocyte pyruvate kinase: PK-"Gainesville," PK-"San Juan," and PK-"Cape Canaveral".三种红细胞丙酮酸激酶突变同工酶的生化特性：PK-“盖恩斯维尔”、PK-“圣胡安”和PK-“卡纳维拉尔角”

Am J Hematol. 1983 Jun;14(4):335-44. doi: 10.1002/ajh.2830140404.

The molecular basis of disorders of red cell enzymes.红细胞酶紊乱的分子基础。

J Clin Pathol. 1999 Apr;52(4):241-4. doi: 10.1136/jcp.52.4.241.

Pyruvate kinase deficiency.丙酮酸激酶缺乏症

Nihon Ketsueki Gakkai Zasshi. 1987 Dec;50(8):1445-52.

Pyruvate kinase deficiency hemolytic anemia: enzymatic characterization studies in twelve patients.丙酮酸激酶缺乏症溶血性贫血：12例患者的酶学特征研究

Hemoglobin. 1980;4(5-6):611-25. doi: 10.3109/03630268008997731.

Ten cases of pyruvate kinase (PK) deficiency found in Japan: enzymatic characterization of the patients' PK.在日本发现的10例丙酮酸激酶（PK）缺乏症病例：患者PK的酶学特征

Nihon Ketsueki Gakkai Zasshi. 1988 Sep;51(6):1080-5.

引用本文的文献

A red cell pyruvate kinase mutant with normal L-type PK in the liver.一种肝脏中L型丙酮酸激酶正常的红细胞丙酮酸激酶突变体。

Hum Genet. 1982;61(3):256-8. doi: 10.1007/BF00296454.

本文引用的文献

Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients.遗传性红细胞丙酮酸激酶（PK）缺乏症与慢性溶血性贫血：对6名西班牙新患者的临床、遗传及分子研究

Hum Genet. 1980;53(3):401-8. doi: 10.1007/BF00287063.

An inherited molecular lesion of erythrocyte pyruvate kinase. Identification of a kinetically aberrant isozyme associated with premature hemolysis.红细胞丙酮酸激酶的一种遗传性分子病变。与过早溶血相关的动力学异常同工酶的鉴定。

J Clin Invest. 1968 Aug;47(8):1929-46. doi: 10.1172/JCI105883.

Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers?非球形红细胞溶血性贫血中的红细胞丙酮酸激酶缺乏症：一个多重遗传标记系统？

Blood. 1968 Jul;32(1):33-48.

Studies on pyruvate kinase (PK) deficiency. I. Clinical, hematological and erythrocyte enzyme studies.丙酮酸激酶（PK）缺乏症的研究。I. 临床、血液学及红细胞酶学研究。

Nihon Ketsueki Gakkai Zasshi. 1974 Feb;37(1):1-16.

Electrophoretic and kinetic studies of mutant erythrocyte pyruvate kinases.突变型红细胞丙酮酸激酶的电泳及动力学研究

Blood. 1974 Apr;43(4):537-48.

On the molecular basis of pyruvate kinase deficiency. I. Primary defect or conseqence of increased glutathione disulfide concentration.丙酮酸激酶缺乏症的分子基础。I. 原发性缺陷或谷胱甘肽二硫化物浓度升高的后果

Biochim Biophys Acta. 1973 Oct 10;321(2):496-502. doi: 10.1016/0005-2744(73)90192-7.

Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis.葡萄糖磷酸异构酶缺乏症：一种伴有溶血的酶变体在体内不稳定的证据。

Blood. 1973 May;41(5):691-9.

Clinical heterogeneity of erythrocyte pyruvate kinase deficiency. Evidence of an impaired utilization of ATP in a clinically severe form.红细胞丙酮酸激酶缺乏症的临床异质性。临床严重形式下ATP利用受损的证据。

Helv Paediatr Acta. 1972 Nov;27(5):471-88.

Hemolytic anemia and G6PD deficiency.溶血性贫血和葡萄糖-6-磷酸脱氢酶缺乏症。

Science. 1973 Feb 9;179(4073):532-7. doi: 10.1126/science.179.4073.532.

[Erythrocytic pyruvate kinase. II. Enzymatic heterogeneity of deficiencies. Studies concerning 28 cases with congenital hemolytic anemia].[红细胞丙酮酸激酶。II. 缺乏症的酶学异质性。关于28例先天性溶血性贫血的研究]

Nouv Rev Fr Hematol. 1972 Sep-Oct;12(5):569-94.

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