Matsuda I, Arashima S, Mitsuyama T, Oka Y, Ikeuchi T, Kaneko Y, Ishikawa M
Humangenetik. 1975 Oct 20;30(1):69-73. doi: 10.1007/BF00273633.
A pregnancy from a family in risk of I-cell disease was monitored. The fetus was diagnosed as having I-cell disease based on the findings that (1) lysosomal enzyme activities except for acid phosphatase and alpha glucosidase were clearly elevated in amniotic fluid and were reduced in cultivated amniotic fluid cells, and (2) cytoplasmic inclusions were seen in cultivated amniotic cells by phase contrast microscopy. The accuracy of prediction was confirmed by cultured skin fibroblast of the aborted fetus.
对一个有患I细胞病风险的家族中的一次妊娠进行了监测。基于以下发现，胎儿被诊断为患有I细胞病：（1）羊水除酸性磷酸酶和α-葡萄糖苷酶外的溶酶体酶活性明显升高，而培养的羊水细胞中这些酶活性降低；（2）通过相差显微镜观察，培养的羊水细胞中可见胞质内包涵体。流产胎儿的培养皮肤成纤维细胞证实了预测的准确性。
