LSDDB
A currative database for lysosomal storage disorder
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Post Translational Defect
Enzyme/Protein
Disease
Gene location
Gene
OMIM
UniProt
Formyl-Glycine generating enzyme
Multiple sulfatase deficiency
3p26.1
SUMF1
272200
Q8NBK3
N-acetyl glucosaminidase
Sanfilippo B
17q21.1
NAGLU
252910
P54802
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