A case of familial "benign' methylmalonic aciduria?

J Inherit Metab Dis. 1996;19(5):696-7. doi: 10.1007/BF01799848.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Child
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Kidney / metabolism
  • Male
  • Methylmalonic Acid / urine*
  • Phenotype

Substances

  • Methylmalonic Acid