| Pompe's disease | 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) |
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| Pompe disease | <disease> Severe glycogen storage disease, also called glycogenosis II, is caused by deficiency of alpha-1,4-glucosidase, the lysosomal enzyme responsible for glycogen hydrolysis. Even though the nonlysosomal glycogenolytic system is normal, glycogen still accumulates in the lysosomes in almost all tissues, but produces especially severe effects in skeletal and cardiac muscle leading to early mortality. Specific enzyme assay in muscle cells, leukocytes or amniocytes confirms the diagnosis. (29 Dec 1997) |
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| Pompe, J | <person> 20th century Dutch physician. See: Pompe's disease. (05 Mar 2000) |
| Pompe's d. |
glycogen storage d., type II.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Pompe's disease |
glycogen storage disease (type II).
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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