作者: Larry Schneck , Masazumi Adachi , Bruno W. Volk
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摘要: Chemical studies were performed on three fetuse with Tay-Sachs disease. Only two chemical abnormalities detected. One was the absence of hexosaminidase A activity in all tissues analyzed. The second an increase percent cerebral Gm2-ganglioside. In addition, abnormal inclusion bodies seen fetal neurons. These lipid cytosomes differed from classical membranous cytoplasmic postnatal state Screening Ashkenazi population and monitoring high-risk pregnancies by amniocentesis is a means reducing incidence