Article
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Molecular genetics and metabolism - 1 Feb 2008
Ruijter G J G, Valstar M J, van de Kamp J M, van der Helm R M, Durand S, van Diggelen O P, Wevers R A, Poorthuis B J, Pshezhetsky A V, Wijburg F A
Abstract excerpt
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene. Psychomotor development was reported to be normal in all patients during the first...
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