False negative thiosulphate screening test in a case of molybdenum cofactor deficiency

J Inherit Metab Dis. 1999 Oct;22(7):842-3. doi: 10.1023/a:1005518426781.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Asphyxia
  • Coenzymes*
  • False Negative Reactions
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Metalloproteins / metabolism*
  • Molybdenum Cofactors
  • Neonatal Screening*
  • Oxidoreductases Acting on Sulfur Group Donors / deficiency*
  • Pteridines / metabolism*
  • Seizures
  • Thiosulfates / urine*

Substances

  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Thiosulfates
  • molybdenum cofactor
  • Oxidoreductases Acting on Sulfur Group Donors