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...

Descripción completa

Detalles Bibliográficos
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:
Case Reports
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

Internet

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