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 GM2-gangliosidosis B1 variant.
    Author: Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC.
    Journal: Prenat Diagn; 1995 Jun; 15(6):585-8. PubMed ID: 7659693.
    Abstract:
    Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared.
    [Abstract] [Full Text] [Related] [New Search]