search:gm1 gangliosidosis相關網頁資料

- www.ninds.nih.gov
  
  Generalized Gangliosidoses - NINDS - National Institutes of Health
  
  16 Apr 2014 ... The gangliosidoses are a group of inherited metabolic diseases caused ... The GM1 gangliosidoses are caused by a deficiency of the enzyme ...
  
  2024-09-05
  
  瀏覽：1369
- www.omim.org
  
  OMIM Entry - # 230500 - GM1-GANGLIOSIDOSIS, TYPE I
  
  GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically ...
  
  2024-08-31
  
  瀏覽：1269

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GM1 gangliosidoses | Gangliosidosis - Gangliosidosis | Just another Meacos site

日期：2024-09-02

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. Types of GM1 gangliosidoses GM1...

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GM1 Gangliosidosis Differential Diagnoses

日期：2024-09-03

Differential Diagnoses: 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 ....

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Generalized Gangliosidoses Information Page: National Institute of Neurological Disorders and Stroke

日期：2024-09-01

Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease often die by age 4 from recurring infection. Children with Sandhoff disease generally die ......

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Gangliosidosis - Wikipedia, the free encyclopedia

日期：2024-09-03

Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally. Types [edit] GM1 gangliosidoses...

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GM1 Gangliosidosis Treatment & Management

日期：2024-09-02

2014年12月11日 - Treatment & Management: GM1 Gangliosidosis. GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by ......

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OMIM Entry - # 230600 - GM1-GANGLIOSIDOSIS, TYPE II

日期：2024-09-03

A number sign (#) is used with this entry because GM1-gangliosidosis type II is caused by mutation in the gene encoding beta-galactosidase-1 (GLB1; 611458)....

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GLB1-Related Disorders - GeneReviews® - NCBI Bookshelf

日期：2024-09-03

2013年10月17日 - GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis ......

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