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Glucose phosphate isomerase deficiency as a cause of hydrops fetalis.

作者信息

Ravindranath Y, Paglia D E, Warrier I, Valentine W, Nakatani M, Brockway R A

出版信息

N Engl J Med. 1987 Jan 29;316(5):258-61. doi: 10.1056/NEJM198701293160506.

DOI:10.1056/NEJM198701293160506
PMID:3796702
Abstract
摘要

相似文献

1
Glucose phosphate isomerase deficiency as a cause of hydrops fetalis.磷酸葡萄糖异构酶缺乏症作为胎儿水肿的一个病因
N Engl J Med. 1987 Jan 29;316(5):258-61. doi: 10.1056/NEJM198701293160506.
2
[Glucosephosphate isomerase deficiency].[葡萄糖磷酸异构酶缺乏症]
Ned Tijdschr Geneeskd. 1980 Mar 8;124(10):343-5.
3
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia].葡萄糖磷酸异构酶缺乏症伴先天性非球形红细胞溶血性贫血
Harefuah. 1994 Jun 15;126(12):699-702, 764, 763.
4
Nonimmunologic hydrops fetalis: a review of 61 cases.非免疫性胎儿水肿：61例病例回顾
Obstet Gynecol. 1982 Mar;59(3):347-52.
5
[Deficit of glucose phosphate isomerase in erythrocytes of a Polish girl with inherited hemolytic anemia].[一名患有遗传性溶血性贫血的波兰女孩红细胞中磷酸葡萄糖异构酶缺乏症]
Pol Tyg Lek. 1990;45(21-22):439-41.
6
Hydrops foetalis.胎儿水肿
Acta Paediatr Acad Sci Hung. 1974;15(1):41-8.
7
[Non-immunologic hydrops fetalis and congenital chylothorax].[非免疫性胎儿水肿与先天性乳糜胸]
Arch Fr Pediatr. 1985 Aug-Sep;42(7):537-8.
8
Nonimmunologic hydrops fetalis. Report of two cases.非免疫性胎儿水肿。两例报告。
Obstet Gynecol. 1974 Apr;43(4):567-70.
9
[Fetal anemia].
Ned Tijdschr Geneeskd. 1986 Aug 9;130(32):1425-8.
10
[Non-immunological hydrops fetalis].[非免疫性胎儿水肿]
Ugeskr Laeger. 1987 Apr 6;149(15):966-8.

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Glucose-6-phosphate isomerase deficiency hemolysis.葡萄糖-6-磷酸异构酶缺乏症溶血
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2
Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report.葡萄糖-6-磷酸异构酶（GPI）缺乏导致的遗传性非球形红细胞溶血性贫血一例报告。
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Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
葡萄糖-6-磷酸异构酶缺乏症的临床和分子谱系。12例新病例报告。
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Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.葡萄糖-6-磷酸异构酶缺乏症：印度人群中 p.Arg347His 突变的高发生率与严重遗传性非球形细胞性溶血性贫血伴神经功能障碍相关。
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Compound heterozygosity in gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.一种先前未被识别的内含子多态性基因与一种罕见错义突变的复合杂合性，作为严重丙酮酸激酶缺乏症的新病因。
Haematologica. 2019 Sep;104(9):e428-e431. doi: 10.3324/haematol.2018.214692. Epub 2019 Apr 4.
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Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report.采用反复宫内输血成功治疗葡萄糖磷酸异构酶缺乏症（GPI）所致胎儿溶血病：一例报告
Clin Case Rep. 2015 Oct;3(10):862-5. doi: 10.1002/ccr3.358. Epub 2015 Sep 7.
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An infant with chronic hemolytic anemia.一名患有慢性溶血性贫血的婴儿。
Turk Pediatri Ars. 2014 Sep 1;49(3):264-8. doi: 10.5152/tpa.2014.1813. eCollection 2014 Sep.
8
Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.遗传性非球形细胞溶血性贫血和严重的葡萄糖-6-磷酸异构酶缺乏症患者，该患者为人 GPI 基因 L487F 突变的纯合子。
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10
Fetal anaemia due to pyruvate kinase deficiency.丙酮酸激酶缺乏所致的胎儿贫血。
Arch Dis Child. 1993 Nov;69(5 Spec No):523-4. doi: 10.1136/adc.69.5_spec_no.523.