Prenatal diagnosis of Gaucher disease
โ Scribed by Y Singh; D Arora; SPS Kochar
- Book ID
- 117514577
- Publisher
- Armed Forces Medical Services, India
- Year
- 2010
- Tongue
- English
- Weight
- 55 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0377-1237
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๐ SIMILAR VOLUMES
We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and b-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose ยฎrst sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of t
Mutations in the gene encoding -glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is particularly