伴有红细胞腺嘌呤核苷酸、谷胱甘肽增加及嗜碱性点彩和磷酸核糖焦磷酸激酶（RPK）缺乏的非球形细胞溶血性贫血：对两个新家族的研究 - Suppr

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超能文献

Nonspherocytic haemolytic anaemia with increased red cell adenine nucleotides, glutathione and basophilic stippling and ribosephosphate pyrophosphokinase (RPK) deficiency: studies on two new kindreds.

作者信息

Valentine W N, Bennett J M, Krivit W, Konrad P N, Lowman J T, Paglia D E, Wakem C J

出版信息

Br J Haematol. 1973 Feb;24(2):157-67. doi: 10.1111/j.1365-2141.1973.tb05736.x.

DOI:10.1111/j.1365-2141.1973.tb05736.x

PMID:4713623

Abstract

摘要

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Nonspherocytic haemolytic anaemia with increased red cell adenine nucleotides, glutathione and basophilic stippling and ribosephosphate pyrophosphokinase (RPK) deficiency: studies on two new kindreds.伴有红细胞腺嘌呤核苷酸、谷胱甘肽增加及嗜碱性点彩和磷酸核糖焦磷酸激酶（RPK）缺乏的非球形细胞溶血性贫血：对两个新家族的研究

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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 hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency.伴有人类红细胞嘧啶5'-核苷酸酶缺乏的遗传性溶血性贫血。

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

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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。

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Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics.胞质5'-核苷酸酶III（NT5C3）：基因序列变异与功能基因组学

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Isolation of a Chinese hamster cell mutant with low intracellular phosphoribosylpyrophosphate concentration.具有低细胞内磷酸核糖焦磷酸浓度的中国仓鼠细胞突变体的分离。

Mol Cell Biol. 1982 Dec;2(12):1619-27. doi: 10.1128/mcb.2.12.1619-1627.1982.

Hereditary hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency.伴有人类红细胞嘧啶5'-核苷酸酶缺乏的遗传性溶血性贫血。

J Clin Invest. 1974 Oct;54(4):866-79. doi: 10.1172/JCI107826.

Detection of pyrimidine 5'-nucleotidase deficiency using 1H- or 31P-nuclear magnetic resonance.利用氢-1或磷-31核磁共振检测嘧啶5'-核苷酸酶缺乏症

Experientia. 1986 Jan 15;42(1):69-72. doi: 10.1007/BF01975900.

Adenosine uptake in pyrimidine 5'-nucleotidase deficient human erythrocytes via a high affinity transport system.通过高亲和力转运系统在嘧啶5'-核苷酸酶缺乏的人红细胞中摄取腺苷。

Experientia. 1985 Mar 15;41(3):366-8. doi: 10.1007/BF02004508.

Effects of low-level lead exposure on pyrimidine 5'-nucleotidase and other erythrocyte enzymes. Possible role of pyrimidine 5'-nucleotidase in the pathogenesis of lead-induced anemia.低水平铅暴露对嘧啶5'-核苷酸酶及其他红细胞酶的影响。嘧啶5'-核苷酸酶在铅诱导贫血发病机制中的可能作用。

J Clin Invest. 1975 Nov;56(5):1164-9. doi: 10.1172/JCI108192.

Hereditary hemolytic anemia with erythrocyte pyrimidine 5'-nucleotidase deficiency in Spain. Clinical, biological and familial studies.西班牙伴有红细胞嘧啶5'-核苷酸酶缺乏的遗传性溶血性贫血。临床、生物学及家族研究

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Advances in hereditary red cell enzyme anomalies.遗传性红细胞酶异常的进展

Hum Genet. 1979;50(1):1-27. doi: 10.1007/BF00295584.

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