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单词 Fabry's Disease
释义
Fabry's Disease

An X-linked inherited disease (that is one in which females may be carriers but only males are affected as they do not have a normal X chromosome to balance the abnormal one). It results in failure to produce the enzyme, alpha-galactosidase which leads to a build-up of certain abnormal lipids within cells. This produces abnormalities in many body tissues including skin (angiokeratomas), heart, nervous system and – ultimately – kidney failure. Treatment to delay progression is with fortnightly intravenous injections of agalsidase beta.

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更新时间:2025/4/21 19:40:33