红细胞磷酸葡萄糖异构酶和葡萄糖-6-磷酸脱氢酶联合缺乏症
Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of erythrocytes.
作者信息
Steiman I, Kaufman S, Zaidman J L, Leiba H
出版信息
Isr J Med Sci. 1978 Nov;14(11):1186-90.
PMID:750548
Abstract
A patient with combined deficiency of erythrocyte glucose phosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) is presented. The propositus has persistent unconjugated hyperbilirubinemia. One of his two brothers exhibits the same rare enzymatic defect, but without any clinical symptoms. The electrophoretic pattern of GPI showed GPI type 1. There seems to be a correlation between the unconjugated hyperbilirubinemia and the combined enzymopathy in our patient.
摘要
本文报告了1例红细胞磷酸葡萄糖异构酶（GPI）和葡萄糖-6-磷酸脱氢酶（G6PD）联合缺乏的患者。先证者有持续性非结合胆红素血症。他的两个兄弟中有一人表现出相同的罕见酶缺陷，但无任何临床症状。GPI的电泳图谱显示为GPI 1型。在我们的患者中，非结合胆红素血症与联合酶病之间似乎存在关联。
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Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of erythrocytes.红细胞磷酸葡萄糖异构酶和葡萄糖-6-磷酸脱氢酶联合缺乏症
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引用本文的文献
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Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family.意大利一个家族中红细胞磷酸葡萄糖异构酶（GPI）和葡萄糖-6-磷酸脱氢酶（G6PD）联合缺乏症
Hum Genet. 1981;57(2):226-9. doi: 10.1007/BF00282031.
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