伴有己糖激酶缺乏的遗传性溶血性贫血。己糖激酶在红细胞衰老中的作用。 - Suppr

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超能文献

Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging.

作者信息

Valentine W N, Oski F A, Paglia D E, Baughan M A, Schneider A S, Naiman J L

出版信息

N Engl J Med. 1967 Jan 5;276(1):1-11. doi: 10.1056/NEJM196701052760101.

DOI:10.1056/NEJM196701052760101

PMID:6015552

Abstract

摘要

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Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging.伴有己糖激酶缺乏的遗传性溶血性贫血。己糖激酶在红细胞衰老中的作用。

N Engl J Med. 1967 Jan 5;276(1):1-11. doi: 10.1056/NEJM196701052760101.

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。

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Hereditary nonspherocytic hemolytic anemia due to a new hexokinase variant with reduced stability.由一种稳定性降低的新型己糖激酶变体引起的遗传性非球形细胞溶血性贫血。

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[Congenital hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes, polynuclear cells and lymphocytes].[先天性溶血性贫血与红细胞、多核细胞及淋巴细胞中磷酸甘油酸激酶缺乏相关]

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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。

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Edema and hemolytic anemia in premature infants. A vitamin E deficiency syndrome.

N Engl J Med. 1968 Nov 28;279(22):1185-90. doi: 10.1056/NEJM196811282792202.

[Glucosephosphate isomerase deficiency].[葡萄糖磷酸异构酶缺乏症]

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Estimation of human erythrocyte life-span from bilirubin turnover.从胆红素周转率估算人类红细胞寿命

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Investigation of erythrocyte turnover with selenium-75-labeled methionine.用硒-75标记的蛋氨酸研究红细胞更新

J Lab Clin Med. 1966 Mar;67(3):427-38.

Quantitative measurement of enzymes.酶的定量测定

Ann Clin Lab Sci (1971). 1972 Jan-Feb;2(1):57-62.

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An Unusual Cause of Hexokinase 1 Deficiency-Case Report.己糖激酶1缺乏症的一种罕见病因——病例报告

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A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.一名患有己糖激酶缺乏症和吉尔伯特综合征患者的HK1基因第7外显子中的新型致病性错义变异体。

Genes (Basel). 2024 Dec 7;15(12):1576. doi: 10.3390/genes15121576.

Novel insights into the etiology of diabetes from genome-wide association studies.全基因组关联研究对糖尿病病因的新见解。

Diabetes. 2009 Nov;58(11):2444-7. doi: 10.2337/db09-1153.

Absent thumbs with a ring D2 chromosome: a new deletion syndrome.伴有2号环状染色体的无拇指畸形：一种新的缺失综合征。

Am J Hum Genet. 1967 Sep;19(5):644-59.

Mannose metabolism in the human erythrocyte.人类红细胞中的甘露糖代谢。

J Clin Invest. 1969 Mar;48(3):461-6. doi: 10.1172/JCI106003.

An inherited molecular lesion of erythrocyte pyruvate kinase. Identification of a kinetically aberrant isozyme associated with premature hemolysis.红细胞丙酮酸激酶的一种遗传性分子病变。与过早溶血相关的动力学异常同工酶的鉴定。

J Clin Invest. 1968 Aug;47(8):1929-46. doi: 10.1172/JCI105883.

The changing face of acute rheumatic fever.急性风湿热不断变化的面貌。

Br Heart J. 1970 Sep;32(5):579-82. doi: 10.1136/hrt.32.5.579.

[Hexokinase isoenzymes in normal erythrocytes of adults and newborns and in various hyperregenerative anemias].[成人及新生儿正常红细胞和各种增生性贫血中的己糖激酶同工酶]

Klin Wochenschr. 1969 Jul 15;47(14):772-8. doi: 10.1007/BF01880123.

Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects.正常受试者及Ⅲ型糖原贮积病受试者红细胞中的葡萄糖和糖原代谢

J Clin Invest. 1968 Jun;47(6):1343-8. doi: 10.1172/JCI105826.

Ocular manifestations in angiokeratoma corporis diffusum (Fabry).弥漫性躯体血管角质瘤（法布里病）的眼部表现。

Br J Ophthalmol. 1971 Oct;55(10):683-92. doi: 10.1136/bjo.55.10.683.

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