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: Molecular biology of glucocerebrosidase and the treatment of Gaucher disease.
    Author: Barranger JA, Tomich J, Weiler S, Sakallah S, Sansieri C, Mifflin T, Bahnson A, Wei FS, Wei JF, Vallor M.
    Journal: Cytokines Mol Ther; 1995 Sep; 1(3):149-63. PubMed ID: 9384672.
    Abstract:
    The inherited deficiency of glucocerebrosidase results in a group of sphingolipid storage disorders referred to collectively as Gaucher disease. Study of the biochemistry and cell biology of glucocerebrosidase has made possible an effective enzyme replacement therapy for the disease. Definition of the molecular genetics of glucocerebrosidase has improved diagnostic capabilities and presents the exciting possibility of a cure through gene therapy.
    [Abstract] [Full Text] [Related] [New Search]