Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare inherited genetic lysosomal storage disease characterized by deficiency in one of the four enzymes involved in breakdown and metabolism of heparan sulfate. This leads to buildup of heparan sulfate in the brain and other tissues. Clinical manifestations include progressive loss of cognitive abilities and motor...
Arabic
Français
Español
Português
Deutsch
Türkçe
Dutch
Italiano
Russian
Romaian