The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile

J Inherit Metab Dis. 1994;17(1):142-5. doi: 10.1007/BF00735420.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acids / urine
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • Coenzymes*
  • Humans
  • Infant, Newborn
  • Metal Metabolism, Inborn Errors / urine*
  • Metalloproteins / metabolism*
  • Molybdenum Cofactors
  • Pteridines / metabolism*
  • Purines / urine
  • Sulfates / urine

Substances

  • Amino Acids
  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Purines
  • Sulfates
  • molybdenum cofactor