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Glykogenupplagringssjukdom typ III
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ Glykogenupplagringssjukdom typ III 8 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glykogenupplagringssjukdom typ III 8 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
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Anmärkning: | |
Anmärkning: | An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
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Annotation: | do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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historyNote*: | 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 3 see under GLYCOGENOSIS 1975-88
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onlineNote*: | use GLYCOGEN STORAGE DISEASE TYPE III to search GLYCOGENOSIS 3 1975-88
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publicMeSHNote*: | 91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 3 see under GLYCOGENOSIS 1975-88
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activeMeSHYear*: | 2007X |
dateCreated*: | 1974-12-12X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Glykogenoosi III (fi) XTyypin III dekstrinoosi (fi, ersatt) Glykogenoosi tyyppi III (fi, ersatt) Dekstrinoosi tyyppi III (fi, ersatt) Tyypin III glykogenoosi (fi, ersatt) Tyyppi III dekstrinoosi (fi, ersatt) Tyyppi III glykogenoosi (fi, ersatt) Dekstrinoosi III (fi, ersatt) Corin tauti (fi, ersatt) Glykogenos 3 (sv, ersatt) Glycogen Storage Disease Type III (en) Deficiency, Debrancher (en, ersatt) Debrancher Deficiency (en, ersatt) Cori's Disease (en, ersatt) Forbes Disease (en, ersatt) Glycogen Debranching Enzyme Deficiency (en, ersatt) Limit Dextrinosis (en, ersatt) Glycogenosis 3 (en, ersatt) Cori Disease (en, ersatt) Morbus Cor (la-FI, ersatt) |
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