Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.
D000115:Acetylesterase / Q000378:metabolism*; D000818:Animals; D001011:Aorta / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D002417:Cattle; D005347:Fibroblasts / Q000201:enzymology; D006493:Heparin; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006867:Hydrolases; D066298:In Vitro Techniques; D008607:Intellectual Disability / Q000201:enzymology*; D007962:Leukocytes / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000378:metabolism*; D012867:Skin / Q000201:enzymology*; D013429:Sulfatases / Q000378:metabolism; D013431:Sulfates / Q000378:metabolism; D013462:Sulfur Radioisotopes
D013431:Sulfates; D013462:Sulfur Radioisotopes; D006493:Heparin; D006867:Hydrolases; D000115:Acetylesterase; D013429:Sulfatases; C022708:N-sulfoglucosamine sulfohydrolase