双胞胎中的1型GM1神经节苷脂贮积症
GM1 gangliosidosis type 1 in twins.
作者信息
Ginsburg C M, Long C G
出版信息
J Med Genet. 1977 Apr;14(2):132-4. doi: 10.1136/jmg.14.2.132.
Abstract
This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants.
摘要
本报告描述了患有I型GM1神经节苷脂病的7个月大的单卵双胞胎女婴。除了常见的临床和生化异常外，两名婴儿均出现了全身性皮肤内毛细血管扩张。
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