Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

J Inherit Metab Dis. 1985;8(3):155-6. doi: 10.1007/BF01819306.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Argininosuccinate Synthase / genetics*
  • Cell-Free System
  • Citrulline / blood*
  • Fibroblasts / enzymology
  • Humans
  • Infant
  • Infant, Newborn
  • Japan
  • Kidney / enzymology
  • Ligases / genetics*
  • Liver / enzymology
  • Protein Biosynthesis
  • Skin / enzymology

Substances

  • Citrulline
  • Ligases
  • Argininosuccinate Synthase