Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease
β Scribed by Atsuko Fujimoto; Arvan L. Fluharty; Riachard L. Stevens; Hayato Kihara; Miriam G. Wilson
- Book ID
- 115821383
- Publisher
- Elsevier Science
- Year
- 1976
- Tongue
- English
- Weight
- 864 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0009-8981
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Chediak-Higashi syndrome (CHS) is an auto-soma1 recessive disease in humans, cats, and 8 other species. The homology of CHS in humans and cats has been demonstrated. Since human CHS is a progressive, serious, and eventually fatal disease, a method for prenatal diagnosis would be desirable. This stud
## Abstract We have had experience with over 300 amniotic fluid specimens for prenatal diagnosis for the fragile X chromosome [fra(X)], and the flask method of tissue culture has been routinely utilized requiring extended tissue culture periods of 3β4 weeks. The use of the in situ clonal method of