SGSH, N-sulfoglucosamine sulfohydrolase, 6448

N. diseases: 80; N. variants: 69
Disease: Multiple Sulfatase Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268263
Disease: Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency Disease 		0.010 Biomarker disease BEFREE By studying the mouse models of two LSDs associated with severe neurodegeneration, multiple sulfatase deficiency (MSD) and mucopolysaccharidosis type IIIA (MPSIIIA), we observed an accumulation of autophagosomes resulting from defective autophagosome-lysosome fusion. 17913701 2008