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: Neonatal Gaucher disease presenting as persistent thrombocytopenia.
    Author: Roth P, Sklower Brooks S, Potaznik D, Cooma R, Sahdev S.
    Journal: J Perinatol; 2005 May; 25(5):356-8. PubMed ID: 15861202.
    Abstract:
    Mutations in the beta-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symptoms. We describe a neonate homozygous for the D409 H mutation with thrombocytopenia, splenomegaly and cholestasis at birth as the major features.
    [Abstract] [Full Text] [Related] [New Search]