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Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome.

作者信息

Valentine W N, Hsieh H S, Paglia D E, Anderson H M, Baughan M A, Jaffé E R, Garson O M

出版信息

N Engl J Med. 1969 Mar 6;280(10):528-34. doi: 10.1056/NEJM196903062801003.

DOI:10.1056/NEJM196903062801003
PMID:5764452
Abstract
摘要

相似文献

1
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome.与红细胞和白细胞中磷酸甘油酸激酶缺乏相关的遗传性溶血性贫血。一种可能的X染色体连锁综合征。
N Engl J Med. 1969 Mar 6;280(10):528-34. doi: 10.1056/NEJM196903062801003.
2
Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes.
Trans Assoc Am Physicians. 1968;81:49-65.
3
[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]
Nouv Rev Fr Hematol. 1971 Jul-Aug;11(4):565-78.
4
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。
N Engl J Med. 1969 Jan 9;280(2):66-71. doi: 10.1056/NEJM196901092800203.
5
Introduction to discussion of regulation of erythrocyte glycolysis.红细胞糖酵解调节讨论引言。
Exp Eye Res. 1971 May;11(3):273-9. doi: 10.1016/s0014-4835(71)80039-8.
6
Study of the blood.血液研究。
N Engl J Med. 1969 Mar 6;280(10):559-60. doi: 10.1056/NEJM196903062801011.
7
[Molecular aspects of red cell enzyme anomalies].[红细胞酶异常的分子层面]
Nihon Ketsueki Gakkai Zasshi. 1980 Dec;43(6):1196-202.
8
[Erythrocyte and leucocyte 3-phosphoglycerate kinase deficiency. Studies of properties of the enzyme, phagocytic activity of the polymorphonuclear leucoytes and a review of the literature].
Nouv Rev Fr Hematol. 1974 Jul-Aug;14(4):495-508.
9
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.
10
Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity.
Clin Chim Acta. 1976 May 17;69(1):21-8. doi: 10.1016/0009-8981(76)90467-8.

引用本文的文献

1
Anaesthesia Challenges for a Patient with Phosphoglycerate Kinase Deficiency Undergoing Open Gastrostomy Procedure: A Case Report.一名磷酸甘油酸激酶缺乏症患者行开放式胃造口术的麻醉挑战：病例报告
Rom J Anaesth Intensive Care. 2022 Dec 29;28(2):86-88. doi: 10.2478/rjaic-2021-0014. eCollection 2021 Dec.
2
A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.一种与西班牙人群中 PGK1 缺乏症肌病形式的剪接缺陷相关的新型错义变异。
Genes (Basel). 2019 Oct 10;10(10):785. doi: 10.3390/genes10100785.
3
A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.
磷酸甘油酸激酶缺乏症患者暗视反应中的负波形：一份视觉电生理报告。
Doc Ophthalmol. 2015 Dec;131(3):215-20. doi: 10.1007/s10633-015-9511-0. Epub 2015 Sep 22.
4
Myopathy and parkinsonism in phosphoglycerate kinase deficiency.磷酸甘油酸激酶缺乏症中的肌病和帕金森病。
Muscle Nerve. 2010 May;41(5):707-10. doi: 10.1002/mus.21612.
5
Electrophoretic variation for x-chromosome-linked phosphoglycerate kinase (pgk-1) in the mouse.X 染色体连锁磷酸甘油酸激酶（pgk-1）在小鼠中的电泳变异。
Genetics. 1977 Oct;87(2):319-25. doi: 10.1093/genetics/87.2.319.
6
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia.一种与溶血性贫血无关的磷酸甘油酸激酶缺乏变异体的特征分析。
Am J Hum Genet. 1980 May;32(3):364-73.
7
Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome.X染色体上磷酸甘油酸激酶基因的限制性酶切位点多态性
Hum Genet. 1984;66(2-3):217-9. doi: 10.1007/BF00286604.
8
Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.人X染色体编码的磷酸甘油酸激酶全长cDNA克隆的分离与DNA序列分析
Proc Natl Acad Sci U S A. 1983 Jan;80(2):472-6. doi: 10.1073/pnas.80.2.472.
9
Phosphoglycerate kinase: an X-linked polymorphism in man.磷酸甘油酸激酶：人类中的一种X连锁多态性。
Am J Hum Genet. 1971 Jan;23(1):87-91.
10
The relationship between cell membrane potassium ion transport and glycolysis. The effect of ethacrynic acid.细胞膜钾离子转运与糖酵解之间的关系。依他尼酸的作用。
J Gen Physiol. 1969 Nov;54(5):650-63. doi: 10.1085/jgp.54.5.650.