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Glycogen storage disease type X
- ... deficiency PGAM deficiency PGAMM deficiency Genetic Testing Registry: Glycogen storage disease type X Glycogen storage disease due to phosphoglycerate mutase deficiency ...
- 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 ...
- ... 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 ...
- ... 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, ...
- ... 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- ...
- ... PFKM gene have been found to cause glycogen storage disease type VII (GSDVII). This ... PHOSPHOFRUCTOKINASE, ...
- ... on the activity of phosphoglycerate kinase in different types of cells. ... kinase 1 deficiency Glycogen storage ...