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: Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.
    Author: Sarfati R, Hubert A, Dugué-Maréchaud M, Biran-Mucignat V, Pierre F, Bonneau D.
    Journal: Prenat Diagn; 2000 Apr; 20(4):340-3. PubMed ID: 10740209.
    Abstract:
    We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops fetalis and also stress that minimal and precocious echographic signs can be suggestive of such a lysosomal storage disease.
    [Abstract] [Full Text] [Related] [New Search]