amylo-1,6-glucosidase

01/01/2011 - "The purpose of this study was to evaluate a fluorimetric technique for the determination of amylo-1,6-glucosidase activity in leukocytes, in order to confirm the diagnosis of type III glycogen storage disease. "
01/01/1983 - "Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies."
05/11/1970 - "Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease."
01/01/1986 - "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. "
10/01/1984 - "A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes."

05/01/1971 - "Studies in glycogen storage disease type 3: kinetics of amylo-1,6-glucosidase in human erythrocytes."
02/01/1966 - "A new substrate for the detection of amylo-1,6-glucosidase, and its application to the study of glycogen-storage disease type 3."
01/01/2011 - "[Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III]."
06/01/2008 - "Glycogen storage disease type III (GSD-III) is an autosomal recessive disorder caused by the lack of amylo-1,6-glucosidase (AGL), one of the catalytic domains of the glycogen debranching enzyme. "
12/01/2012 - "Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo-1,6-glucosidase (AGL). "

01/01/1991 - "This method has been developed for the prenatal diagnosis of a grave hereditary disease, a deficiency of amylo-1,6-glucosidase (A-1,6-G) activity. "

03/01/1986 - "A 42-year-old man with adult-onset type III glycogenosis (Cori's disease) developed a gradually progressive polyneuropathy with markedly reduced activity of muscle amylo-1,6-glucosidase and glycogen accumulation within all elements of biopsied sural nerve, including axons, as shown by ultrastructural assessment."

01/01/1981 - "These two subgroups were distinguished by hemolysate enzyme assays: (1) GSD IX was characterized by a residual phosphorylase kinase activity, a low activation curve for endogenous phosphorylase b and increased amylo-1,6-glucosidase activity. "