MeSH 搜索器

Niemann-Pick Diseases

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
推出的年份: 2000(1966)
副标题
树号: C10.228.140.163.100.435.825.700, C15.604.250.410.625, C16.320.565.189.435.825.700, C16.320.565.398.641.803.730, C16.320.565.595.554.825.700, C18.452.132.100.435.825.700, C18.452.584.563.641.803.730, C18.452.648.189.435.825.700, C18.452.648.398.641.803.730, C18.452.648.595.554.825.700
MeSH 单一 ID: D009542
进入的组:
  • Niemann Pick Diseases
  • Niemann-Pick Disease
  • Niemann Pick Disease

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