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Glycogen Storage Disease Type VII
Definition: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Synonym(s): Glycogenosis 7 / Tarui Disease / Deficiency, Muscle Phosphofructokinase / Muscle Phosphofructokinase Deficiency / Tarui's Disease / Deficiencies, Muscle Phosphofructokinase / Disease, Tarui / Disease, Tarui's / Muscle Phosphofructokinase Deficiencies / Phosphofructokinase Deficiencies, Muscle / Phosphofructokinase Deficiency, Muscle / Taruis Disease
See also:
Phosphofructokinase-1   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Glycogen Storage Disease Type VII"
             

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view the HON description of the site HONcode - Type VII: Taruiwww.agsdus.org  
view the robot description of the site AGSD | Association for Glycogen Storage Disease (UK) www.agsd.org.uk  
 
 

Broader term(s): - Muscular Dystrophies - Muscular Disorders, Atrophic - Muscular Diseases - Musculoskeletal Diseases - Glycogen Storage Disease - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Medical image(s) for "Glycogen Storage Disease Type VII"
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Broader term(s): - Muscular Dystrophies
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  Medical News for "Glycogen Storage Disease Type VII"
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Broader term(s): - Muscular Diseases

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  Scientific articles from MEDLINE for "Glycogen Storage Disease Type VII"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Glycogen Storage Disease Type VII"
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Broader term(s): - Muscular Dystrophies - Muscular Diseases - Musculoskeletal Diseases - Glycogen Storage Disease - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Carbohydrate Metabolism, Inborn Errors
                          Glycogen Storage Disease 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Muscular Dystrophies 
                  Metabolism, Inborn Errors
                      Carbohydrate Metabolism, Inborn Errors
                          Glycogen Storage Disease 
      Diseases
          Musculoskeletal Diseases
              Muscular Diseases
                  Muscular Disorders, Atrophic
                      Muscular Dystrophies 

MeSH 2010 © U.S. National Library of Medicine®.

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