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。 - Suppr

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超能文献

Glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the first case found in Japanese.

作者信息

Miwa S, Nakashima Y, Oda S, Oda E, Matsumoto N

出版信息

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

PMID:4738992

Abstract

摘要

相似文献

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.

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.

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.

Phosphoglycerate kinase (PKG) deficiency hereditary nonspherocytic hemolytic anemia: report of a case found in a Japanese family.

Nihon Ketsueki Gakkai Zasshi. 1972 Aug;35(4):511-4.

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.

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.

[Adenosine triphosphatase (ATP-ase) deficiency in a family with nonspherocytic hemolytic anemia].

Nord Med. 1971 Dec 16;86(50):1540.

[Hereditary nonspherocytic hemolytic anemia caused by a deficiency in erythrocytic hexokinase associated with glycogenosis of muscles].

Klin Med (Mosk). 1970 Aug;48(8):156-63.

引用本文的文献

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.

Unique phenotypic expression of glucosephosphate isomerase deficiency.葡萄糖磷酸异构酶缺乏症的独特表型表达。

Am J Hum Genet. 1975 Jan;27(1):62-70.

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.

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.

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