Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation

Mol Genet Metab. 2009 Aug;97(4):315. doi: 10.1016/j.ymgme.2009.04.012. Epub 2009 May 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Antiporters / genetics
  • Child
  • Female
  • Glycogen Storage Disease Type I / genetics*
  • Hepatomegaly / genetics
  • Humans
  • Monosaccharide Transport Proteins / genetics
  • Phenotype
  • RNA Splice Sites / genetics

Substances

  • Antiporters
  • Monosaccharide Transport Proteins
  • RNA Splice Sites
  • SLC37A4 protein, human