Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency

J Inherit Metab Dis. 2003;26(1):80-2. doi: 10.1023/a:1024091900547.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Coenzymes*
  • Female
  • Homocysteine / blood*
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Metal Metabolism, Inborn Errors / blood*
  • Metalloproteins / deficiency*
  • Molybdenum Cofactors
  • Prealbumin / metabolism*
  • Pteridines
  • Spectrometry, Mass, Electrospray Ionization
  • Uric Acid / blood

Substances

  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Prealbumin
  • Pteridines
  • Homocysteine
  • Uric Acid
  • molybdenum cofactor