Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype


Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). Information on the natural course of MPS IIIB is scarce but much needed in view of emerging therapies. To improve knowledge on the natural course, data on all 52 MPS IIIB patients… (More)
DOI: 10.1007/s10545-010-9199-y

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