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日期:2024-04-22
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve ...
GM1 ganglioside is important for normal functioning of nerve cells in the brain....
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日期:2024-04-19
11 Dec 2014 ... GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder
characterized by the generalized accumulation of GM1 ganglioside, ......
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日期:2024-04-19
The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells....
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日期:2024-04-23
This is an autosomal recessive lysosomal storage disease secondary to a mutations in GLB1 (3p21.33). It is allelic to Morquio B disease (MPS IVB) (253010). The mutations in the beta-galactosidase-1 gene result in intracellular accumulation of GM1 ganglios...
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日期:2024-04-22
GM1 Gangliosidosis. GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). ... Acid β ...
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日期:2024-04-21
The 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...
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日期:2024-04-22
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:2024-04-21
GM1 gangliosidosis is a rare lysosomal storage disorder characterized
biochemically by deficient beta-galactosidase activity and clinically by a wide
range of ......