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单词 pompe's disease
释义

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Pompe's disease
In the genitive and attributive, esp. in Pompe's disease. Designating an inherited (autosomal recessive) metabolic disorder in which deficiency of the enzyme acid alpha-glucosidase (acid maltase) leads to the accumulation of glycogen in lysosomes in cardiac and skeletal muscle and other tissues. Also called type II glycogenosis.The eponym is often reserved for the infantile form of this disorder, in which symptoms begin in the first few months of life.
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1959 Current List Med. Lit. 36 R435/1 Anatomicoclinical observation of a case of diffuse cardiac glycogenosis (Pompe's disease).
1960 Jrnl. Chronic Dis. 12 394 These (four or more) types of hepatic glycogen storage do not appear to be related to glycogen storage disease of the heart (Pompe's syndrome).
1974 Amer. Jrnl. Dis. Child 128 622/1 Pompe disease, or generalized glycogenosis.
1982 T. M. Devlin Textbk. Biochem. vii. 385 Type II glycogen storage disease or Pompe's disease is caused by the absence of α-1,4 glucosidase.
2001 J. Le Fanu They don't know what's Wrong xv. 225 Pompe's disease, where the muscle is unable to use its store of glycogen and the only therapy is a diet utilizing another source of energy, protein.
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更新时间:2024/12/23 4:04:39