MeSH 搜索器

Sphingolipidoses

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
推出的年份: 1992(1974)
副标题
树号: C10.228.140.163.100.435.825, C16.320.565.189.435.825, C16.320.565.398.641.803, C16.320.565.595.554.825, C18.452.132.100.435.825, C18.452.584.563.641.803, C18.452.648.189.435.825, C18.452.648.398.641.803, C18.452.648.595.554.825
MeSH 单一 ID: D013106
进入的组:
  • Sphingolipid Storage Diseases
  • Sphingolipid Storage Disease
  • Storage Disease, Sphingolipid
  • Storage Diseases, Sphingolipid
  • Sphingolipidosis

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