Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry

Rapid Commun Mass Spectrom. 2005;19(6):863-4. doi: 10.1002/rcm.1861.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Humans
  • Hydroxyproline / blood*
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors
  • Neonatal Screening / methods*
  • Oxidoreductases Acting on CH-NH Group Donors / deficiency*
  • Spectrometry, Mass, Electrospray Ionization / methods*

Substances

  • Oxidoreductases Acting on CH-NH Group Donors
  • hydroxyproline oxidase
  • Hydroxyproline