IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Mucopolysaccharidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 Biomarker disease BEFREE One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS IIIA: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. 18546277 2008
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 AlteredExpression disease BEFREE Bicistronic vector LP1CD overcame down-regulation and practically introduced the highest IDUA level in unselected PBL(MPS) and an intermediate level in PBPC(MPS). 11110421 2000
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 AlteredExpression disease BEFREE There was a threefold increase of glycosaminoglycans (GAG) in the brain of MPS-I, but only a slight increase in the MPS-V; GAG in the liver and spleen of all patients was noticeably increased. alpha-L-iduronidase activity was not detectable in the brain and liver of patients with MPS-I and MPS-V, thus suggesting a similar enzymatic defect. 817693 1976