葡萄糖-6-磷酸脱氢酶缺乏症与慢性溶血：四个新突变体——临床综合征与酶动力学之间的关系 - Suppr

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G6PD deficiency and chronic hemolysis: four new mutants--relationships between clinical syndrome and enzyme kinetics.

作者信息

Rattazzi M C, Corash L M, van Zanen G E, Jaffé E R, Piomelli S

出版信息

Blood. 1971 Aug;38(2):205-18.

PMID:4397482

Abstract

摘要

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G6PD deficiency and chronic hemolysis: four new mutants--relationships between clinical syndrome and enzyme kinetics.葡萄糖-6-磷酸脱氢酶缺乏症与慢性溶血：四个新突变体——临床综合征与酶动力学之间的关系

Blood. 1971 Aug;38(2):205-18.

[On a rare form of glucose-6-phosphate dehydrogenase deficiency with congenital nonspherocytic hemolytic anemia].[关于一种伴有先天性非球形细胞溶血性贫血的罕见形式的葡萄糖-6-磷酸脱氢酶缺乏症]

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[Importance of the study of glucose-6-phosphate dehydrogenase in clinical medicine].[葡萄糖-6-磷酸脱氢酶研究在临床医学中的重要性]

Recenti Prog Med. 1968 Oct;45(4):363-86.

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Pol Tyg Lek. 1988;43(18-19):593-7.

[Variant Gd(-) "Strasbourg" of glucose-6-phosphate-dehydrogenase].[葡萄糖-6-磷酸脱氢酶的“斯特拉斯堡”变异型Gd(-)]

Nouv Rev Fr Hematol. 1970 Mar-Apr;10(2):312-4.

A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia.一种与先天性溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶变体（G6PD 长野型）

Hum Genet. 1982;62(4):368-70. doi: 10.1007/BF00304560.

[Enzymatic and structural defects of erythrocytes in a case of congenital hemolytic anemia].[先天性溶血性贫血一例中红细胞的酶学及结构缺陷]

Acta Haematol Pol. 1972 Jul-Sep;3(3):245-50.

A new variant of glucose-6-phosphate dehydrogenase deficiency hereditary hemolytic anemia, G6PD Cornell: erythrocyte, leukocyte, and platelet studies.

Blood. 1974 Sep;44(3):323-31.

Glucose-6-phosphate dehydrogenase Beaumont: a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia.葡萄糖-6-磷酸脱氢酶博蒙特型：一种伴有严重酶缺乏和慢性非球形红细胞溶血性贫血的新变体。

Enzyme. 1985;34(1):15-21. doi: 10.1159/000469354.

Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications.西西里岛的葡萄糖-6-磷酸脱氢酶缺乏症。发病率、生化特征及临床意义。

Clin Genet. 1979 Feb;15(2):183-8. doi: 10.1111/j.1399-0004.1979.tb01759.x.

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Apollo-NADP(+): a spectrally tunable family of genetically encoded sensors for NADP(+).Apollo-NADP(+): 一种光谱可调的 NADP(+)基因编码传感器家族。

Nat Methods. 2016 Apr;13(4):352-8. doi: 10.1038/nmeth.3764. Epub 2016 Feb 15.

Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.对于因葡萄糖-6-磷酸脱氢酶突变导致严重酶缺乏的杂合子，体细胞选择是血细胞表型的主要决定因素。

Am J Hum Genet. 1996 Oct;59(4):887-95.

Glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症

Postgrad Med J. 1994 Dec;70(830):871-7. doi: 10.1136/pgmj.70.830.871.

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.

Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan.岐阜型和福冈型葡萄糖-6-磷酸脱氢酶阴性。在日本发现的两种新型葡萄糖-6-磷酸脱氢酶变体。

Hum Genet. 1984;66(2-3):276-8. doi: 10.1007/BF00286616.

Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil.

Hum Genet. 1984;65(4):402-4. doi: 10.1007/BF00291568.

G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia.仙台G6PD：一种与先天性溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶变异体。

Hum Genet. 1983;65(2):214-5. doi: 10.1007/BF00286669.

A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum.一种独特的电泳迁移缓慢的葡萄糖6-磷酸脱氢酶变体（旭川葡萄糖6-磷酸脱氢酶），其最适pH值明显呈酸性。

Hum Genet. 1984;68(1):70-2. doi: 10.1007/BF00293876.

Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies.蛋白酶的选择性作为遗传性缺陷中酶组织分布的基础。

Proc Natl Acad Sci U S A. 1983 Jun;80(12):3767-8. doi: 10.1073/pnas.80.12.3767.

A new G-6-PD variant associated with chronic non-spherocytic haemolytic anaemia in a negro family.在一个黑人家庭中发现一种与慢性非球形红细胞溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶（G-6-PD）变异体。

J Med Genet. 1972 Jun;9(2):160-4. doi: 10.1136/jmg.9.2.160.

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