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Results 1 - 8 of 8 for Glycogen storage disease type X
  1. ... 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 ...
  2. ... 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 ...
  3. ... 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 ...
  4. ... 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, ...
  5. ... PFKM gene have been found to cause glycogen storage disease type VII (GSDVII). This ... PHOSPHOFRUCTOKINASE, ...
  6. ... 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- ...
  7. ... 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. ...
  8. ... breakdown of ATP releases energy to drive many types of chemical reactions. AMP-activated ... Citation on PubMed