Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl

Pediatr Int. 2007 Apr;49(2):232-4. doi: 10.1111/j.1442-200X.2007.02325.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Codon, Nonsense*
  • Female
  • Humans
  • Infant
  • Japan
  • Methylmalonic Acid / blood*
  • Methylmalonyl-CoA Mutase / deficiency
  • Methylmalonyl-CoA Mutase / genetics*
  • Phenotype

Substances

  • Codon, Nonsense
  • Methylmalonic Acid
  • Methylmalonyl-CoA Mutase