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

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 deterioratio...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852993/
https://www.ncbi.nlm.nih.gov/pubmed/31718697
http://dx.doi.org/10.1186/s13023-019-1232-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852993/
https://www.ncbi.nlm.nih.gov/pubmed/31718697
http://dx.doi.org/10.1186/s13023-019-1232-0

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