Article
Extraneurologic symptoms as presenting signs of Sanfilippo disease.
Pediatric neurology - 1 Sept 2001
Barone R, Fiumara A, Villani G R, Di Natale P, Pavone L
Abstract excerpt
Sanfilippo disease, or mucopolysaccharidosis type III, results from the deficiency of lysosomal hydrolases, which impairs heparan sulfate metabolism. Clinically, the disease is characterized by a mild somatic phenotype combined with early severe neurodegenerative illness with prominent behavioral disturbance. We report clinical and molecular findings of a child with Sanfilippo disease type B...
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