Fibrinogen storage disease caused by Aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease

J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):133-6. doi: 10.1097/MPG.0b013e31817ed7ea.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Endoplasmic Reticulum / metabolism
  • Fibrinogens, Abnormal / genetics*
  • Fibrinogens, Abnormal / metabolism
  • Genetic Predisposition to Disease*
  • Humans
  • Hypobetalipoproteinemias / genetics*
  • Liver Diseases / genetics*
  • Male
  • Metabolic Diseases / genetics*
  • Mutation*

Substances

  • Fibrinogens, Abnormal