Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).
de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, Visser G, Wijburg FA
Journal of inherited metabolic disease, 2014 May
Abstract
Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although short stature is invariably present in patients with the other mucopolysaccharidoses, it has not been sufficiently addressed in MPS III. The aim of this study was to investigate growth data of a large Dutch MPS III cohort in order to construct growth charts for MPS III patients.