Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID

J Pediatr Gastroenterol Nutr. 2012 Nov:55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Carbohydrate Metabolism, Inborn Errors / complications
  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Metabolism, Inborn Errors / enzymology
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • DNA
  • Dietary Carbohydrates / metabolism
  • Genetic Testing
  • Humans
  • Mutation*
  • Sucrase-Isomaltase Complex / deficiency
  • Sucrase-Isomaltase Complex / genetics*
  • Sucrase-Isomaltase Complex / metabolism

Substances

  • Dietary Carbohydrates
  • DNA
  • Sucrase-Isomaltase Complex

Supplementary concepts

  • Sucrase-isomaltase deficiency, congenital