phosphofructokinase deficiency

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phosphofructokinase deficiency

Abbreviation: PFKM

A glycogen storage disease caused by a deficiency of muscle phosphofructokinase and characterized by muscular weakness, and muscle cramps after exercise, hemolysis, hyperuricemia, and myoglobinuria.

Synonym: glycogen storage disease type VII; Tarui disease

See also: deficiency

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ceramidase deficiency
deficiency of sweating
glycogen storage disease VII
glycogen storage diseases
glycogenosis type 7
ISD
LAD
mental deficiency
muscle phosphorylase deficiency

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Glycogen phosphorylase
Glycogen Phosphorylase A
Glycogen Phosphorylase Isoenzyme BB
Glycogen Phosphorylase, Muscle
Glycogen phosphorylase, muscle form
Glycogen Phosphorylase-2
Glycogen Phosphorylase-Activating Hormone
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glycogen storage disease type Ia
glycogen storage disease type Ia
glycogen storage disease type Ia
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Glycogen Storage Disease Type Ib
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Glycogen storage disease type II
Glycogen storage disease type II
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Glycogen storage disease type V
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Glycogen storage disease type VII
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