Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD). We report a rare and interesting case of a young boy who presented with generalized weakness and reduced muscle bulk since childhood. He w...

how to cite this article: tonekaboni s.h. juvenile pompe. iran j child neurol autumn 2012; 6:4 (suppl. 1):10.   pls see pdf.

30. Chantret I, Lacasa M, Chevalier G, et al. Sequence of the complete cDNA and the 50 structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase. Biochem J 1992; 285:915–23. 31. Nichols BL, Eldering J, Avery S, et al. Human small intestinal maltaseglucoamylase cDNA cloning. Homology to sucrase-isomaltase. J Biol Chem 1998;273:3076–81. 32. Nichols BL, Avery S, S...

The periodic rise and frequency of diabetes mellitus (DM) have pressured into the quest for other possible anti-diabetic remedies from medicinal plants. foremost strategies engaged in lessening gastrointestinal glucose levels by hindrance carbohydrate digesting enzyme prominently as α-glucosidase . Acarbose, currently used an inhibitor, is a useful treatment option management hyperglycemia type...

how to cite this article: nilipour y. lysosomal myopathies. iran j child neurol autumn 2012; 6:4 (suppl. 1):11. pls see pdf.