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Ornitinkarbamoyltransferasbristsjukdom
Hierarki: | ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom 27 sidobegrepp∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom 27 sidobegreppX |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom ∟ ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom ∟ ∟ ∟ ∟ ∟ Ornitinkarbamoyltransferasbristsjukdom |
Anmärkning: | Ornithine Carbamoyltransferase/deficiency (1966-1999)X |
Anmärkning: | An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as a sex-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
X |
Annotation: | consider also ORNITHINE CARBAMOYLTRANSFERASE /defic
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: | Ornitiinitranskarbamylaasin puutos (fi) XOrnitiinikarbamoyylitransferaasin puutos (fi, ersatt) Ornitiinitranskarbamylaasin puute (fi, ersatt) OTC-puute (fi, ersatt) OTC-puutos (fi, ersatt) Ornitiinikarbamoyylitransferaasin puute (fi, ersatt) OCT-puutos (fi, ersatt) OCT-puute (fi, ersatt) Ornithine Carbamoyltransferase Deficiency Disease (en) Deficiency Disease, Ornithine Transcarbamylase (en, ersatt) Ornithine Transcarbamylase Deficiency Disease (en, ersatt) Deficiency Disease, Ornithine Carbamoyltransferase (en, ersatt) |
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