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。 - Suppr

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Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies.

作者信息

Schröter W, Koch H H, Wonneberger B, Kalinowsky W, Arnold A, Blume K G, Hüther W

出版信息

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

DOI:10.1203/00006450-197401000-00004

PMID:4809302

Abstract

摘要

相似文献

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.

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.

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.

Fine structure of the spleen and liver in glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Selective reticulocyte destruction as a mechanism of hemolysis.葡萄糖磷酸异构酶（GPI）缺乏遗传性非球形红细胞溶血性贫血时脾脏和肝脏的精细结构。选择性网织红细胞破坏作为溶血机制。

Nihon Ketsueki Gakkai Zasshi. 1973 Feb;36(1):46-54.

[Hereditary non-spherocytic hemolytic anemia caused by glucosephosphate isomerase deficiency: 1. case observed in Switzerland].

Schweiz Med Wochenschr. 1974 Sep 28;104(39):1379-81.

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.

Glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the second case found in Japanese.葡萄糖磷酸异构酶（GPI）缺乏遗传性非球形红细胞溶血性贫血。在日本人中发现的第二例病例报告。

Nihon Ketsueki Gakkai Zasshi. 1973 Feb;36(1):70-3.

Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease.伴有神经系统疾病的红细胞和白细胞磷酸甘油酸激酶缺乏症。

J Pediatr. 1973 Mar;82(3):456-60. doi: 10.1016/s0022-3476(73)80120-9.

[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.

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.

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Oxidation Resistance 1 Modulates Glycolytic Pathways in the Cerebellum via an Interaction with Glucose-6-Phosphate Isomerase.氧化还原酶 1 通过与葡萄糖-6-磷酸异构酶相互作用调节小脑糖酵解途径。

Mol Neurobiol. 2019 Mar;56(3):1558-1577. doi: 10.1007/s12035-018-1174-x. Epub 2018 Jun 15.

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.

The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.与慢性溶血性贫血相关的人类葡萄糖磷酸异构酶缺乏症基因突变的特征分析。

J Clin Invest. 1994 Dec;94(6):2326-9. doi: 10.1172/JCI117597.

Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency.

Eur J Pediatr. 1980 Oct;135(1):41-3. doi: 10.1007/BF00445891.

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.

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.

[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.

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants.三种新型磷酸葡萄糖异构酶变体的临床症状和生化特性

Blut. 1986 Jul;53(1):21-8. doi: 10.1007/BF00320579.

Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn.与磷酸葡萄糖异构酶缺乏相关的先天性非球形红细胞溶血性贫血：帕德博恩变异型

Klin Wochenschr. 1977 Apr 15;55(8):393-6. doi: 10.1007/BF01488625.

Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.葡萄糖磷酸异构酶缺乏所致先天性溶血性贫血：遗传学、临床表现及产前诊断

J Med Genet. 1979 Jun;16(3):189-96. doi: 10.1136/jmg.16.3.189.

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