Cargando…
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation,...
Autores principales: | Kim, Ja Hye, Chi, Yang Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Jun Hwa |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177708/ https://www.ncbi.nlm.nih.gov/pubmed/28018442 http://dx.doi.org/10.3345/kjp.2016.59.11.S37 |
Ejemplares similares
-
An Uncommon Presentation of Mucopolysaccharidosis Type IIIb
por: REZAYI, Alireza, et al.
Publicado: (2019) -
A model of mucopolysaccharidosis type IIIB in pigs
por: Yang, Qiang, et al.
Publicado: (2018) -
The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study
por: Shapiro, E., et al.
Publicado: (2016) -
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
por: Valstar, Marlies J., et al.
Publicado: (2010) -
Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB
por: Wilkinson, Fiona L., et al.
Publicado: (2012)