KORNER N H
J Clin Pathol. 1962 May;15(3):200-5. doi: 10.1136/jcp.15.3.200.
A patient with hypophosphatasia and her relatives, including an affected brother, were studied with regard to serum alkaline phosphatase levels, phosphoethanolamine excretion, leucocyte alkaline phosphatase, blood group genes, and alkaline phosphatase distribution in the serum protein fractions. The pattern of alkaline phosphatase distribution in the serum protein fractions was normal both in the clinically affected patients and in their relatives. Thus the electrophoretic mobility of serum alkaline phosphatases is not altered in hypophosphatasia. The mere presence of phosphoethanolamine in the urine was of no help in detecting heterozygotes for the hypophosphatasia gene(s), as this substance was also found in control urines.
对一名低磷酸酯酶症患者及其亲属（包括一名患病的兄弟）进行了研究，涉及血清碱性磷酸酶水平、磷酸乙醇胺排泄、白细胞碱性磷酸酶、血型基因以及血清蛋白组分中碱性磷酸酶的分布。在临床患病患者及其亲属中，血清蛋白组分中碱性磷酸酶的分布模式均正常。因此，低磷酸酯酶症患者血清碱性磷酸酶的电泳迁移率未发生改变。仅通过尿液中存在磷酸乙醇胺无助于检测低磷酸酯酶症基因的杂合子，因为在对照尿液中也发现了这种物质。
