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Results 1 - 10 of 15 for Glycogen storage disease type X
  1. ... deficiency PGAM deficiency PGAMM deficiency Genetic Testing Registry: Glycogen storage disease type X Glycogen storage disease due to phosphoglycerate mutase deficiency ...
  2. Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms ...
  3. ... X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Glycogen storage disease type 2B Glycogen storage disease type IIb Lysosomal glycogen ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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, ...
  8. ... APS Foundation of America APS Support UK APS Type 1 Foundation ARPKD/CHF Alliance Arrhythmia Alliance (UK) Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Program Arthrogryposis Group (UK) ARVD/C Patient Registry Association for Creatine Deficiencies Association for Frontotemporal Degeneration Association for Glycogen Storage Disease Association for X and Y Chromosome Variations (AXYS) Ataxia of Charlevoix- ...
  9. ... PFKM gene have been found to cause glycogen storage disease type VII (GSDVII). This ... PHOSPHOFRUCTOKINASE, ...
  10. ... on the activity of phosphoglycerate kinase in different types of cells. ... kinase 1 deficiency Glycogen storage ...
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