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MeSH 搜索器

Multiple Sulfatase Deficiency Disease

An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
推出的年份: 2007
副标题
树号: C10.228.140.163.100.435.825.850.750, C16.320.565.189.435.825.850.750, C16.320.565.398.641.803.925.750, C16.320.565.595.554.825.850.750, C18.452.132.100.435.825.850.750, C18.452.584.563.641.803.925.750, C18.452.648.189.435.825.850.750, C18.452.648.398.641.803.925.750, C18.452.648.595.554.825.850.750
MeSH 单一 ID: D052517
进入的组:
  • Mucosulfatidosis
  • Multiple Sulfatase Deficiency
  • Multiple Sulfatase Deficiencies
  • Multiple Sulphatase Deficiency Disease
  • Sulfatidosis, Juvenile, Austin Type
  • Sulfatidosis Juvenile, Austin Type
  • Juvenile Sulfatidosis
  • Juvenile Sulfatidoses
  • Sulfatidoses, Juvenile
  • Sulfatidosis, Juvenile
早前的内容:
  • Sulfatases (1973-2006)

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