ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Disease: Citrullinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.010 Biomarker disease BEFREE This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase deficiency (ASA or ALD), and arginase deficiency (ARGD). 29423830 2018