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CDG-syndrom
Hierarki: | ∟ ∟ ∟ ∟ ∟ CDG-syndrom 12 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ CDG-syndrom 12 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | |
Anmärkning: | |
Anmärkning: | An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors.
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Annotation: | an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CARB DEFIC GLYCOPROTEIN SYNDROME
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historyNote*: | 96
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publicMeSHNote*: | 96
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activeMeSHYear*: | 2007X |
dateCreated*: | 1995-05-24X |
dateEstablished*: | 1996-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | TGCX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Glykoproteiinien hiilihydraattipuutosoireyhtymä (fi) XGlykoproteiinien hiilihydraattipuutossyndrooma (fi, ersatt) Kolhydratfattigt glykoprotein-syndrom (sv, ersatt) Kolhydratdefekt glykoprotein-syndrom (sv, ersatt) Carbohydrate-Deficient Glycoprotein Syndrome (en) Glycoprotein Syndrome, Carbohydrate-Deficient (en, ersatt) |
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