The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered ...

Source: Orphanet Journal of Rare Diseases - November 12, 2019 Category: Internal Medicine Authors: Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg and Margreet A. E. M. Wagenmakers Tags: Research Source Type: research