An Uncommon Presentation of Mucopolysaccharidosis Type IIIb

Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by a lysosomal enzyme deficiency in the catabolic pathway of heparan sulfate. The patients with mucopolysaccharidosis type III usually present with declined neurocognitive functions such as speech and...

Descripción completa

Detalles Bibliográficos
Autores principales: REZAYI, Alireza, FESHANGCHI-BONAB, Mohammad, TAHERIAN, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586455/
https://www.ncbi.nlm.nih.gov/pubmed/31327975

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586455/
https://www.ncbi.nlm.nih.gov/pubmed/31327975

Ejemplares similares