雷克林豪森型磷酸葡萄糖异构酶：一种伴有溶血性贫血的新型酶变体（作者译） - Suppr

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超能文献

[Glucose phosphate isomerase type Recklinghausen: a new enzyme variant with haemolytic anaemia (author's transl)].

作者信息

Arnold H, Engelhardt R, Löhr G W, Jacobi H, Liebold I

出版信息

Klin Wochenschr. 1973 Dec 15;51(24):1198-204. doi: 10.1007/BF01468556.

DOI:10.1007/BF01468556

PMID:4789327

Abstract

摘要

相似文献

[Glucose phosphate isomerase type Recklinghausen: a new enzyme variant with haemolytic anaemia (author's transl)].雷克林豪森型磷酸葡萄糖异构酶：一种伴有溶血性贫血的新型酶变体（作者译）

Klin Wochenschr. 1973 Dec 15;51(24):1198-204. doi: 10.1007/BF01468556.

Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme.伴有先天性非球形红细胞溶血性贫血的葡萄糖磷酸异构酶缺乏症：一种新变异型（诺德霍恩型）。II. 缺陷酶的纯化及生化特性

Pediatr Res. 1974 Jan;8(1):26-30. doi: 10.1203/00006450-197401000-00005.

[Haemolytic anaemia due to congenital deffect in phosphohexoseisomerase. Report of a new variant (PHI-Barcelona) with stomatocytosis and increased osmotic fragility (author's transl)].先天性磷酸己糖异构酶缺陷所致溶血性贫血。一种伴有口形红细胞增多症和渗透脆性增加的新变异型（PHI-巴塞罗那型）报告（作者译）

Sangre (Barc). 1975;20(2):197-206.

[Clinical and biochemical studies of glucosephosphate isomerase of normal human erythrocytes and in glucosephosphate isomerase deficiency].[正常人红细胞磷酸葡萄糖异构酶及磷酸葡萄糖异构酶缺乏症的临床与生化研究]

Klin Wochenschr. 1970 Nov 1;48(21):1299-308. doi: 10.1007/BF01485522.

Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality.与一种异常红细胞己糖激酶异常相关的先天性非球形细胞溶血性贫血。

J Lab Clin Med. 1970 Oct;76(4):593-602.

Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies.葡萄糖磷酸异构酶缺乏症伴先天性非球形细胞溶血性贫血：一种新变异型（诺德霍恩型）。I. 临床和遗传学研究。

Pediatr Res. 1974 Jan;8(1):18-25. doi: 10.1203/00006450-197401000-00004.

Hereditary deficiency of glucosephosphate isomerase as a cause of nonspherocytic hemolytic anemia.葡萄糖磷酸异构酶遗传性缺乏作为非球形红细胞溶血性贫血的一个病因

Blut. 1973 Jun;26(6):393-8. doi: 10.1007/BF01632749.

Glucosephosphate-isomerase (GPI) deficiency: GPI elyria.葡萄糖磷酸异构酶（GPI）缺乏症：GPI缺陷症。（你提供的原文“elyria”可能有误，推测这里想表达的是“deficiency”之类更符合语境的词，以上译文是基于合理推测进行的翻译。）

Ann Intern Med. 1974 Jun;80(6):730-2. doi: 10.7326/0003-4819-80-6-730.

[Concerning tissue-specific isoenzymes of glucosephosphate isomerase in man (author's transl)].关于人类磷酸葡萄糖异构酶的组织特异性同工酶（作者译）

Klin Wochenschr. 1974 Feb 1;52(3):149-51. doi: 10.1007/BF01620756.

Glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the first case found in Japanese.葡萄糖磷酸异构酶（GPI）缺乏遗传性非球形细胞溶血性贫血。首例日本病例报告。

Nihon Ketsueki Gakkai Zasshi. 1973 Feb;36(1):65-9.

引用本文的文献

GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency.GPI型斯科普斯病——磷酸葡萄糖异构酶缺乏症的一种变体

Ann Hematol. 1993 Oct;67(4):197-200. doi: 10.1007/BF01695868.

Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family.

Blut. 1980 Feb;40(2):107-15. doi: 10.1007/BF01013693.

Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family.意大利一个家族中红细胞磷酸葡萄糖异构酶（GPI）和葡萄糖-6-磷酸脱氢酶（G6PD）联合缺乏症

Hum Genet. 1981;57(2):226-9. doi: 10.1007/BF00282031.

Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia.凯泽斯劳滕型葡萄糖磷酸异构酶。一种导致先天性非球形红细胞溶血性贫血的新变异体。

Blut. 1983 May;46(5):271-7. doi: 10.1007/BF00319867.

[Concerning tissue-specific isoenzymes of glucosephosphate isomerase in man (author's transl)].关于人类磷酸葡萄糖异构酶的组织特异性同工酶（作者译）

Klin Wochenschr. 1974 Feb 1;52(3):149-51. doi: 10.1007/BF01620756.

Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia.列日型葡萄糖磷酸异构酶缺乏症：一种伴有先天性非球形细胞溶血性贫血的新变体。

Blut. 1977 Sep 29;35(3):187-93. doi: 10.1007/BF00999459.

Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis.两种新的磷酸葡萄糖异构酶突变体的分子和功能异常，伴有酶缺乏和慢性溶血。

Hum Genet. 1978 Feb 16;40(3):293-304. doi: 10.1007/BF00272190.

Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency.遗传性葡萄糖磷酸异构酶缺乏症。已知变异及该缺乏症发病机制某些方面的综述。

Blut. 1979 Dec;39(6):405-17. doi: 10.1007/BF01008661.

[Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].非球形红细胞性溶血性贫血中红细胞糖酵解及核苷酸代谢的酶缺乏（作者译）

Klin Wochenschr. 1976 Sep 1;54(17):803-21. doi: 10.1007/BF01469302.

Advances in hereditary red cell enzyme anomalies.遗传性红细胞酶异常的进展

Hum Genet. 1979;50(1):1-27. doi: 10.1007/BF00295584.

本文引用的文献

The kinetics of phosphoglucoisomerase.磷酸葡萄糖异构酶的动力学

J Biol Chem. 1960 Aug;235:2178-84.

THE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS.遗传性非球形细胞溶血性贫血

Acta Haematol. 1964 Apr;31:177-86. doi: 10.1159/000209626.

Inhibition of phosphoglucose isomerase.磷酸葡萄糖异构酶的抑制作用。

Nature. 1956 Dec 22;178(4547):1401. doi: 10.1038/1781401a0.

[Erythrocyte isolation from blood with cotton].[用棉花从血液中分离红细胞]

Klin Wochenschr. 1966 Aug 15;44(16):983-4. doi: 10.1007/BF01711475.

Isoelectric fractionation, analysis, and characterization of ampholytes in natural pH gradients. IV. Further studies on the resolving power in connection with separation of myoglobins.天然pH梯度中两性电解质的等电分级分离、分析及特性鉴定。IV. 与肌红蛋白分离相关的分辨率的进一步研究。

Acta Chem Scand. 1966;20(3):820-34. doi: 10.3891/acta.chem.scand.20-0820.

Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes.人类红细胞和白细胞中磷酸己糖异构化缺陷的发生。

N Engl J Med. 1969 Jan 9;280(2):66-71. doi: 10.1056/NEJM196901092800203.

Inherited variations in human phosphohexose isomerase.人类磷酸己糖异构酶的遗传变异

Ann Hum Genet. 1968 May;31(4):329-38. doi: 10.1111/j.1469-1809.1968.tb00565.x.

Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.与葡萄糖磷酸异构酶（GPI）缺乏相关的遗传性溶血性贫血——人类红细胞的一种新的酶缺陷。

Blood. 1968 Aug;32(2):236-49.

Combined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes: a new haemolytic syndrome.红细胞磷酸葡萄糖异构酶和葡萄糖-6-磷酸脱氢酶联合缺乏：一种新的溶血性综合征。

Br J Haematol. 1971 Mar;20(3):249-61. doi: 10.1111/j.1365-2141.1971.tb07036.x.

Klin Wochenschr. 1970 Nov 1;48(21):1299-308. doi: 10.1007/BF01485522.

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