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Citrullinemi
Hierarki: | ∟ ∟ ∟ ∟ ∟ Citrullinemi 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Citrullinemi 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ Citrullinemi 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Citrullinemi 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Citrullinemi 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Citrullinemi 27 sidobegreppX |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Citrullinemi ∟ ∟ ∟ ∟ ∟ Citrullinemi ∟ ∟ ∟ ∟ ∟ ∟ Citrullinemi ∟ ∟ ∟ ∟ ∟ Citrullinemi ∟ ∟ ∟ ∟ ∟ Citrullinemi ∟ ∟ ∟ ∟ ∟ Citrullinemi |
Anmärkning: | Amino Acid Metabolism, Inborn Errors (1965-1999) | Argininosuccinate Synthase/deficiency (1975-1999)X |
Anmärkning: | A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
X |
historyNote*: | 2000
X |
publicMeSHNote*: | 2000
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-11-03X |
dateEstablished*: | 2000-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | KEVX |
Relaterad term: | |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Sitrullinemia (fi) XArgininosukkinaattisyntaasin puute (fi, ersatt) Citrullinemia (en) Deficiency, Argininosuccinic Acid Synthetase, Complete (en, ersatt) Deficiency Disease, Argininosuccinic Acid Synthase (en, ersatt) Deficiency, Argininosuccinic Acid Synthetase, Partial (en, ersatt) Partial Argininosuccinic Acid Synthetase Deficiency Disease (en, ersatt) Deficiency Disease, Argininosuccinate Synthase (en, ersatt) Complete Argininosuccinic Acid Synthetase Deficiency Disease (en, ersatt) Argininosuccinic Acid Synthetase Deficiency Disease (en, ersatt) Argininosuccinic Acid Synthase Deficiency Disease (en, ersatt) Citrullinemia, Classical (en, ersatt) Citrullinemia, Late-Onset (en, ersatt) Citrullinuria (en, ersatt) Citrullinemia, Neonatal (en, ersatt) Argininosuccinate Synthase Deficiency Disease (en, ersatt) Citrullinaemia (la-FI, ersatt) |
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