A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia

J Inherit Metab Dis. 2000 Dec;23(8):851-2. doi: 10.1023/a:1026777106212.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diseases in Twins / genetics*
  • Female
  • Gene Deletion*
  • Glucose-6-Phosphatase / genetics*
  • Glycogen Storage Disease Type I / blood
  • Glycogen Storage Disease Type I / enzymology*
  • Glycogen Storage Disease Type I / genetics
  • Humans
  • Korea
  • Male
  • Twins, Monozygotic / genetics*

Substances

  • Glucose-6-Phosphatase