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Glycogen Storage Disease Type VII

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.
推出的年份: 1991(1989)
副标题
树号: C05.651.534.500.149, C10.668.491.175.500.112, C16.320.565.202.449.600, C16.320.577.149, C18.452.648.202.449.600
MeSH 单一 ID: D006014
进入的组:
  • Deficiency, Muscle Phosphofructokinase
  • Deficiencies, Muscle Phosphofructokinase
  • Muscle Phosphofructokinase Deficiencies
  • Phosphofructokinase Deficiencies, Muscle
  • Phosphofructokinase Deficiency, Muscle
  • Muscle Phosphofructokinase Deficiency
  • Glycogen Storage Disease VII
  • Tarui Disease
  • Disease, Tarui
  • Pfkm Deficiency
  • Deficiencies, Pfkm
  • Deficiency, Pfkm
  • Pfkm Deficiencies
  • GSD VII
  • Glycogenosis 7
  • Tarui's Disease
  • Disease, Tarui's
  • Taruis Disease
早前的内容:
  • Glycogenosis (1966-1974)

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