Sanfilippos Syndrome

《英文msh词典》Sanfilippos Syndrome
[入口词] Sanfilippos Syndrome
[主题词] Mucopolysaccharidosis III
[英文释义] Mucopolysaccharidosis characterized by heparitin sulfate in the urine,progressive mental retardation,mild dwarfism,and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms,each due to a deficiency of a different enzyme.