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Results 1 - 10 of 22 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. ... 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 ...
  4. ... 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 ...
  5. ... is that people with Y chromosomes cannot pass X-linked traits to their children with Y chromosomes. Glycogen storage disease type 2B Glycogen storage disease type IIb Lysosomal glycogen ...
  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. Newborn Screening Tests for Your Baby (March of Dimes Foundation)  
    Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation
  9. ... PFKM gene have been found to cause glycogen storage disease type VII (GSDVII). This ... PHOSPHOFRUCTOKINASE, ...
  10. ... APS Foundation of America APS Support UK APS Type 1 Foundation ARPKD/CHF ... Association for X and Y Chromosome Variations (AXYS) Ataxia of Charlevoix- ...
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