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

作者信息

Müller E, Marti H R, Bach J, Micheli J L, Gasser C

出版信息

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

PMID:4419288
Abstract
摘要

相似文献

1
[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.
2
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.
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.
4
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.
5
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.
6
[Clinical trial of mannose treatment of hemolytic anemia caused by congenital deficiency of erythrocyte glucosephosphate isomerase].[甘露糖治疗先天性红细胞磷酸葡萄糖异构酶缺乏所致溶血性贫血的临床试验]
Acta Haematol Pol. 1992;23(2):123-8.
7
[Phospho-hexo-isomerase deficiency].
Arch Fr Pediatr. 1976 Mar;33(3):217-32.
8
[A new erythroenzymopathy: congenital non-spherocytic hemolytic anemia and hereditary erythrocytic adenylate kinase deficiency].[一种新的红细胞酶病：先天性非球形细胞溶血性贫血与遗传性红细胞腺苷酸激酶缺乏症]
Presse Med (1893). 1971 Jan 30;79(6):215-8.
9
[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.
10
Deficiencies associated with Embden-Meyerhof pathway and other metabolic pathways.与糖酵解途径及其他代谢途径相关的缺陷。
Semin Hematol. 1971 Oct;8(4):348-66.

引用本文的文献

1
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.
2
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.
3
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.
4
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.
5
[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.