Article
Prenatal diagnosis of GM2-gangliosidosis B1 variant.
Prenatal diagnosis - 1 Jun 1995
Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda M C
Abstract excerpt
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 B...
Topics
- Amniocentesis
- Amniotic Fluid
- Brain
- Cells, Cultured
- Female
- Frontal Lobe
- G(M2) Ganglioside
- Humans
- Leukocytes
- Mutation
- Portugal
- Pregnancy
- Prenatal Diagnosis
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases