These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
    Author: Francalanci P, Santorelli FM, Talini I, Boldrini R, Devito R, Camassei FD, Maggiore G, Callea F.
    Journal: J Pediatr; 2006 Mar; 148(3):396-8. PubMed ID: 16615976.
    Abstract:
    We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.
    [Abstract] [Full Text] [Related] [New Search]