Cargando…
Visual impairment in mucopolysaccharidosis VI
Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and...
Autores principales: | Magalhães, Augusto Monteiro, Moleiro, Ana Filipa, Rodrigues, Esmeralda, Castro, Sérgio, Fonseca, José, Leão‐Teles, Elisa |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981417/ https://www.ncbi.nlm.nih.gov/pubmed/36873088 http://dx.doi.org/10.1002/jmd2.12351 |
Ejemplares similares
-
Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies
por: Magalhães, Augusto, et al.
Publicado: (2021) -
Mucopolysaccharidosis VI
por: Valayannopoulos, Vassili, et al.
Publicado: (2010) -
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
por: Karir, Aneesh, et al.
Publicado: (2018) -
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation
por: Honjo, Rachel Sayuri, et al.
Publicado: (2020) -
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis
por: Zapała, Barbara, et al.
Publicado: (2020)