Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364.
No abstract available

MeSH terms

  • Acidosis / complications
  • Familial Mediterranean Fever / complications*
  • Familial Mediterranean Fever / physiopathology
  • Humans
  • Hypergammaglobulinemia / complications*
  • Hypergammaglobulinemia / physiopathology
  • Immunoglobulin D / blood*
  • Mevalonic Acid / urine*
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*

Substances

  • Immunoglobulin D
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid