Article
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
American journal of medical genetics. Part A - 1 Jan 2011
Héron Bénédicte, Mikaeloff Yann, Froissart Roseline, Caridade Guillaume, Maire Irène, Caillaud Catherine, Levade Thierry, Chabrol Brigitte, Feillet François, Ogier Hélène, Valayannopoulos Vassili, Michelakakis Helen, Zafeiriou Dimitrios, Lavery Lucy, Wraith Ed, Danos Olivier, Heard Jean-Michel, Tardieu Marc
Abstract excerpt
Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options...
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