GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Niemann-Pick Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		0.010 Biomarker group BEFREE To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University. 29369793 2018