Gangliosidoses and the fetal retina.
作者信息
Cogan D G, Kuwabara T, Kolodny E, Driscoll S
出版信息
Ophthalmology. 1984 May;91(5):508-12. doi: 10.1016/s0161-6420(84)34274-9.
PMID:6330639
Abstract
Abnormal membranous cytoplasmic inclusions were found in the retinal ganglion cells of two fetuses with gangliosidosis. One was a documented case of incipient Tay-Sachs disease (Gm2) and the other a case of generalized gangliosidosis (Gm1). Both specimens were obtained iatrogenically in the 20th to 21st week of gestation after amniocentesis had indicated the enzyme deficiency.
摘要
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