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MeSH 搜索器

Multiple Carboxylase Deficiency

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
推出的年份: 1987
副标题
树号: C16.320.565.100.620, C16.320.565.202.720, C18.452.648.100.620, C18.452.648.202.720
MeSH 单一 ID: D009100
进入的组:
  • Carboxylase Deficiencies, Multiple
  • Deficiencies, Multiple Carboxylase
  • Multiple Carboxylase Deficiencies
  • Deficiency, Combined Carboxylase
  • Deficiency, Multiple Carboxylase
  • Carboxylase Deficiency, Multiple
  • Carboxylase Deficiency, Combined
  • Carboxylase Deficiencies, Combined
  • Combined Carboxylase Deficiencies
  • Deficiencies, Combined Carboxylase
  • Combined Carboxylase Deficiency
早前的内容:
  • specific enzyme (1966-1974)
  • specific enzyme/deficiency (1975-1986)

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