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type 2 glycogenosis Glycogenosis due to lysosomal alpha-1,4-glucosidase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure in heart, muscle, liver, and nervous system.
Synonym: generalised glycogenosis, Pompe's disease.
(05 Mar 2000)
type 3 glycogenosis Glycogenosis due to amylo-1,6-glucosidase deficiency, resulting in accumulation of abnormal glycogen with short outer chains in liver and muscle.
Synonym: Cori's disease, debranching deficiency limit dextrinosis, limit dextrinosis, Forbes' disease.
(05 Mar 2000)
type 4 glycogenosis Familial cirrhosis of the liver with storage of abnormal glycogen; glycogenosis due to deficiency of 1,4-alpha-glucan branching enzyme, resulting in accumulation of abnormal glycogen with long inner and outer chains in liver, kidney, muscle, and other tissues.
Synonym: Andersen's disease.
(05 Mar 2000)
type 5 glycogenosis Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle.
Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis.
(05 Mar 2000)
type 6 glycogenosis Glycogenosis due to hepatic glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in liver and leukocytes.
Synonym: hepatophosphorylase deficiency glycogenosis, Hers' disease.
(05 Mar 2000)
type 7 glycogenosis Phosphofructokinase deficiency of muscle resulting in muscle cramps and myoglobinuria on extreme exertion. The clinical picture resembles type 5 glycogenosis.
(05 Mar 2000)
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