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
Ultrasonographic aspects of Gaucher's disease: Report of a patient during three pregnancies
โ Scribed by Dr. Alex Schoenfeld; Ron Tepper; Leonard Stein; Matityahu Shaklai; Emanuel Theodor; Jardena Ovadia
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 356 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0091-2751
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Adult-onset, or type 1, Gaucher's disease is an autosomal disorder, characterized by deficiency of a lysosomal enzyme, p-glucocerebrosidase. This results in the accumulation of a glycolipid, glucosylceramide, in distinctive "foam" cells which are seen in the bone marrow, reticuloendothelial tissue,
In I case (0.3 per cent) the duration was stated to be many years. In 18 cases (6.4 per cent) the duration was not stated.
## Abstract ## Purpose. To assess the effects of the tilt test on cerebral blood flow velocity (CBFV), blood pressure, and heart rate in patients with Parkinson's disease (PD) without symptomatic orthostatic dysautonomia. ## Methods. Thirty patients with idiopathic PD and 15 healthy controls wer