Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa

Pediatr Int. 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Aberrations
  • Chromosome Deletion
  • Consanguinity
  • DNA Mutational Analysis*
  • Diagnosis, Differential
  • Dietary Carbohydrates / administration & dosage
  • Dietary Proteins / administration & dosage
  • Exons / genetics
  • Genes, Recessive
  • Glycogen Debranching Enzyme System / genetics*
  • Glycogen Storage Disease Type III / diagnosis
  • Glycogen Storage Disease Type III / diet therapy
  • Glycogen Storage Disease Type III / genetics*
  • Haplotypes / genetics
  • Homozygote
  • Humans
  • Male
  • Polymorphism, Genetic / genetics
  • Sequence Analysis, DNA

Substances

  • Dietary Carbohydrates
  • Dietary Proteins
  • Glycogen Debranching Enzyme System