ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
Disease: Carbamoyl-Phosphate Synthase I Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751753
Disease: Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease 		0.010 GeneticVariation disease BEFREE We found a total of 55 cases of UCDs in Finland by 2007: 30 cases of ornithine transcarbamylase (OTC) deficiency, 20 of argininosuccinate lyase (ASL) deficiency, 3 of carbamyl phosphate synthetase (CPS-I) deficiency, 1 of type 1 citrullinaemia and 1 of argininaemia. 18616627 2008