Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

J Inherit Metab Dis. 2000 Dec;23(8):847-8. doi: 10.1023/a:1026773005303.
No abstract available

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Biomarkers
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Proline / blood*
  • Proline Oxidase / genetics*
  • Syndrome

Substances

  • Biomarkers
  • Proline
  • Proline Oxidase