search:gm1 gangliosidosis相關網頁資料

- www.genes-at-taiwan.com.tw
  
  【罕見遺傳疾病一點通】
  
  神經節甘脂(Gangliosides)是存在於神經細胞膜上的一種重要的醣脂，正常情況下會 ... 為一體染色體隱性遺傳，目前已知控制β -galactosidase產生的基因位於第三對 ...
  
  2024-04-20
  
  瀏覽：473
- www.glycoscienceresearch.com
  
  Ovine GM1 gangliosidosis - Glycoscience Research Inc | GM1 ganglioside for Reseach and Cl
  
  Ovine GM1 gangliosidosis is an autosomal recessive, lysosomal storage disease in sheep associated with a profound deficiency of the lysosomal enzyme acid beta-galatosidase. Due to this missing enzyme GM1 ganglioside, asialo GM1 ganglioside and galactose .
  
  2024-04-20
  
  瀏覽：1189

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GM1 gangliosidosis - Genetics Home Reference

日期：2024-04-17

GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although...

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GM1 gangliosidosis - Genetics Home Reference

日期：2024-04-20

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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GM1 Gangliosidosis - Medscape Reference

日期：2024-04-23

11 Dec 2014 ... GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, ......

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OMIM Entry - # 230500 - GM1-GANGLIOSIDOSIS, TYPE I

日期：2024-04-23

230500 - GM1-GANGLIOSIDOSIS, TYPE I - GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I;; GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1;; BETA-GALACTOSIDASE-1 ......

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GM1 Gangliosidosis - A DATABASE OF HEREDITARY OCULAR DISEASE | Hereditary Ocular Di

日期：2024-04-20

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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GM1 Gangliosidosis - Diseases & Conditions - Medscape Reference

日期：2024-04-21

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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Orphanet: GM1 gangliosidosis

日期：2024-04-23

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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GM1 gangliosidoses - Wikipedia, the free encyclopedia

日期：2024-04-19

Autosomal recessive disorder; beta-galactosidase deficiency; neuronal storage of GM1 ganglioside and visceral storage of galactosyl oligosaccharides and ......

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