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![Orphanet: GM1 gangliosidosis]()
www.orpha.netThe portal for rare diseases and orphan drugs ... Summary GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmologic瀏覽：465 -
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www.tfrd.org.tw代碼 疾病名稱(中) 簡稱 疾病名稱(英) 政府公告 宣導單張 0701 毛毛樣腦血管疾病 Moya moya disease 沒有 有 0702 胼胝體發育不全症 Agenesis of corpus callosum 沒有 沒有瀏覽：763
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日期：2024-08-11
Autosomal recessive disorder; beta-galactosidase deficiency; neuronal storage
of GM1 ganglioside and visceral storage of galactosyl oligosaccharides and ......
瀏覽：324
日期：2024-08-14
16 Apr 2014 ... The gangliosidoses are a group of inherited metabolic diseases caused ... The
GM1 gangliosidoses are caused by a deficiency of the enzyme ......
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日期：2024-08-17
GM1 gangliosidosis is a rare lysosomal storage disorder characterized
biochemically by deficient beta-galactosidase activity and clinically by a wide
range of ......
瀏覽：1218
日期：2024-08-11
GM1 gangliosidosis is an autosomal recessive disease. Genetic counseling
should be provided to affected families. Treatment for patients with GM1 ......
瀏覽：1121
日期：2024-08-14
GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease
characterized by accumulation of ganglioside substrates in lysosomes. Clinically
......
瀏覽：962
日期：2024-08-11
3 Apr 2012 ... Because of this overlap, other researchers believe that GM1 gangliosidosis
represents a continuous disease spectrum instead of three distinct ......
瀏覽：1139
日期：2024-08-15
GM1 Gangliosidosis. Background and History. This is called a storage disease as
metabolic products accumulate in cells as the result of a mutation in a gene ......
瀏覽：1484
日期：2024-08-16
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease with 3
clinical subtypes characterized by varying severity and age of onset....
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