[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC]

Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):313-6.
[Article in Chinese]
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Betaine / administration & dosage
  • Betaine / therapeutic use
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Child
  • China / epidemiology
  • DNA Mutational Analysis
  • Gas Chromatography-Mass Spectrometry
  • Genotype
  • Homocysteine / urine
  • Humans
  • Hydroxocobalamin / administration & dosage
  • Hydroxocobalamin / therapeutic use
  • Hyperhomocysteinemia / complications
  • Hyperhomocysteinemia / diagnosis*
  • Hyperhomocysteinemia / genetics*
  • Hyperhomocysteinemia / therapy
  • Infant
  • Methylmalonic Acid / blood
  • Methylmalonic Acid / urine*
  • Mutation
  • Oxidoreductases
  • Vitamin B 12 / metabolism

Substances

  • Carrier Proteins
  • Homocysteine
  • Betaine
  • Methylmalonic Acid
  • MMACHC protein, human
  • Oxidoreductases
  • Vitamin B 12
  • Hydroxocobalamin

Supplementary concepts

  • Homocysteinemia
  • Methylmalonic acidemia