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MeSH 搜索器

alpha-Mannosidosis

An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
推出的年份: 2004(1985)
副标题
树号: C16.320.565.202.607.500, C16.320.565.595.577.500, C18.452.648.202.607.500, C18.452.648.595.577.500
MeSH 单一 ID: D008363
进入的组:
  • alpha Mannosidosis
  • alpha-Mannosidoses
  • Alpha-Mannosidase B Deficiency
  • alpha-Mannosidase Deficiency
  • Deficiencies, alpha-Mannosidase
  • Deficiency, alpha-Mannosidase
  • alpha Mannosidase Deficiency
  • alpha-Mannosidase Deficiencies
  • Lysosomal Alpha B Mannosidosis
  • Lysosomal alpha-D-Mannosidase Deficiency
  • Deficiencies, Lysosomal alpha-D-Mannosidase
  • Deficiency, Lysosomal alpha-D-Mannosidase
  • Lysosomal alpha D Mannosidase Deficiency
  • Lysosomal alpha-D-Mannosidase Deficiencies
  • alpha-D-Mannosidase Deficiencies, Lysosomal
  • alpha-D-Mannosidase Deficiency, Lysosomal
  • Mannosidosis, alpha B Lysosomal
  • Mannosidosis, alpha B, Lysosomal
  • Alpha-D-Mannosidosis
  • alpha Mannosidase B Deficiency
  • Alpha-Mannosidosis, Type I
早前的内容:
  • Carbohydrate Metabolism, Inborn Errors (1966-1984)
  • Mannose (1966-1984)
  • Mannosidases (1975-1984)
  • Mannosidosis (1985-2003)
  • Metabolism, Inborn Errors (1966-1984)

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