|1.||Comi, G P: 3 articles (03/2012 - 05/2002)|
|2.||Mili, Amira: 2 articles (03/2012 - 01/2011)|
|3.||Limem, Khalifa: 2 articles (03/2012 - 01/2011)|
|4.||Scarlato, G: 2 articles (12/2002 - 05/2002)|
|5.||Lucchiari, S: 2 articles (12/2002 - 05/2002)|
|6.||Bresolin, N: 2 articles (12/2002 - 05/2002)|
|7.||Parini, R: 2 articles (12/2002 - 05/2002)|
|8.||Melis, D: 2 articles (12/2002 - 05/2002)|
|9.||Ben Charfeddine, I: 1 article (12/2012)|
|10.||Mili, A: 1 article (12/2012)|
|1.||Glycogen Storage Disease (Glycogenosis)
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."
|2.||Glycogen Storage Disease Type III (Cori's Disease)
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. "
06/01/2008 - "Glycogen storage disease type III (GSD III; OMIM 232400) is an autosomal recessive deficiency of the glycogen debrancher enzyme, amylo-1,6-glucosidase (EC 126.96.36.199). "
|3.||Inborn Genetic Diseases (Disease, Hereditary)
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."
|2.||Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)
|3.||Glycogen Phosphorylase (Phosphorylase, Glycogen)
|5.||Glucose-6-Phosphatase (Glucose 6 Phosphatase)