Article
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Orphanet journal of rare diseases - 12 Nov 2019
Nijmeijer Stephanie C M, van den Born L Ingeborg, Kievit Anneke J A, Stepien Karolina M, Langendonk Janneke, Marchal Jan Pieter, Roosing Susanne, Wijburg Frits A, Wagenmakers Margreet A E M
Abstract excerpt
BACKGROUND: 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 to be characterized by childhood onset, progressive neurocognitive deterioration with a rapidly or slowly progressing phenotype. The presented MPS III case series demonstrates adult onset...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.