Possible prenatal diagnosis of type III glycogenosis
- 30 July 1984
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 9 (1) , 89-91
- https://doi.org/10.1007/bf01813908
Abstract
This paper reports the first prenatal diagnosis in a pregnancy at risk for type III glycogenosis using a reliable test for amylo-1,6-glucosidase in cultured amniotic fluid cells. This test, based upon the different rates of glycogen and phosphorylase limit dextrin hydrolysis, was found to be more reliable in detecting a deficiency of amylo-1,6-glucosidase activity than either phosphorylase limit dextrin hydrolysis alone or [14C]glucose incorporation using leukocytes and cultured cells.This publication has 4 references indexed in Scilit:
- Incorporation of [14C]Glucose into α-1,4 Bonds of Glycogen by Leukocytes and Fibroblasts of Patients with Type III Glycogen Storage DiseasePediatric Research, 1985
- The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease.Journal of Biological Chemistry, 1978
- [89] Enzymes of glycogen degradation in biopsy materialPublished by Elsevier ,1966