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

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

Abstract 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 dete...

Full description

Bibliographic Details
Main 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, Margreet A. E. M. Wagenmakers
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidosis type III
Sanfilippo syndrome
Phenotypic spectrum
Neuropsychology assessment
Learning difficulties
Online Access:http://link.springer.com/article/10.1186/s13023-019-1232-0

Internet

http://link.springer.com/article/10.1186/s13023-019-1232-0

Similar Items