Fondation Sanfilippo
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The Sanfilippo Syndrome, named after Dr. Sylvester Sanfilippo who described the condition in 1963, is a Mucopolysaccharidosis of type III (MPSIII), due to the deficiency of a of a lyosomal enzyme called heparan N-sulfatase. Heparan N-sulfatase is a crucial actor in the catabolism of heparan sulfate. Deficiency of heparan N-sulfatase leads to severe nervous degeneration and to death between the age of 10 and 20. |
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DINER DE SOUTIEN ORGANISÉ PAR L'AMICALE AUXILIUM |
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25 FéVRIER 2012 JOURNÉE INTERNATIONALE DES MALADIES RARES |
29.02- 2.03. 2012
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29.03.2012 |
