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Glycogen storage disease type X
- ... gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXd or X-linked muscle glycogenosis. This form of the disorder is rare and not well understood. It affects muscles and can cause muscle ... function impairs glycogen breakdown. As a result, glycogen builds up in ...
- ... gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXa or X-linked liver glycogenosis (XLG). This is the most common form of GSD IX, accounting for approximately 75 percent of cases. GSD ... function impairs glycogen breakdown. As a result, glycogen builds up in ...
- ... AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. J Hum Genet. 2006;51(11):958-963. doi: 10.1007/s10038-006-0045-x. Epub 2006 Sep 19. Citation on PubMed Frisbie ...
- ... gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Citation on PubMed Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, ...
- ... PFKM gene have been found to cause glycogen storage disease type VII (GSDVII). This ... PHOSPHOFRUCTOKINASE, ...
- ... PYGM gene have been found to cause glycogen storage disease type V (GSDV). One mutation that is ... doi: 10.1007/s00415-006-0447-x. Epub 2007 Apr 3. Citation on PubMed Nogales- ...
- ... in the cell that digest and recycle different types of materials. The LAMP-2 protein helps ... causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. ...
- ... breakdown of ATP releases energy to drive many types of chemical reactions. AMP-activated ... Citation on PubMed