Adenylosuccinase deficiency: a newly recognized variant

J Inherit Metab Dis. 1992;15(3):416-8. doi: 10.1007/BF02435992.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine / analogs & derivatives
  • Adenosine / cerebrospinal fluid
  • Adenosine / urine
  • Adenylosuccinate Lyase / deficiency*
  • Aminoimidazole Carboxamide / analogs & derivatives
  • Aminoimidazole Carboxamide / cerebrospinal fluid
  • Aminoimidazole Carboxamide / urine
  • Child
  • Chromatography, High Pressure Liquid
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Ribonucleosides / cerebrospinal fluid
  • Ribonucleosides / urine

Substances

  • Ribonucleosides
  • succinylaminoimidazole carboxamide riboside
  • Aminoimidazole Carboxamide
  • succinyladenosine
  • Adenylosuccinate Lyase
  • Adenosine