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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Glycogen Storage Disease Type VII
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Glycogen Storage Disease Type VII
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Glycogen Storage Disease Type VII
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type VII
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type VII

Preferred term

Glycogen Storage Disease Type VII  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Deficiencies, Muscle Phosphofructokinase
  • Deficiencies, Pfkm
  • Deficiency, Muscle Phosphofructokinase
  • Deficiency, Pfkm
  • Disease, Tarui
  • Disease, Tarui's
  • Glycogenosis 7
  • Glycogen Storage Disease VII
  • GSD VII
  • Muscle Phosphofructokinase Deficiencies
  • Muscle Phosphofructokinase Deficiency
  • Pfkm Deficiencies
  • Pfkm Deficiency
  • Phosphofructokinase Deficiencies, Muscle
  • Phosphofructokinase Deficiency, Muscle
  • Tarui Disease
  • Tarui's Disease
  • Taruis Disease

Note

  • do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • 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.

History note

  • 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88

In other languages

  • glykogenoosi VII

    Finnish

  • dekstrinoosi tyyppi VII
  • dekstrinoosi VII
  • glykogenoosi tyyppi VII
  • tyypin VII dekstrinoosi
  • tyypin VII glykogenoosi
  • tyyppi VII dekstrinoosi
  • tyyppi VII glykogenoosi
  • Glykogeninlagringssjukdom typ VII

    Swedish

  • Fosfofruktokinasbrist
  • Glykogenos 7
  • Glykogenos typ VII
  • Taruis sjukdom

URI

http://www.yso.fi/onto/mesh/D006014

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