Retinal and optic nerve degeneration in α-mannosidosis

BACKGROUND: α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. Ocular pathologies reported previously were...

Descripción completa

Detalles Bibliográficos
Autores principales: Matlach, Juliane, Zindel, Thea, Amraoui, Yasmina, Arash-Kaps, Laila, Hennermann, Julia B., Pitz, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984778/
https://www.ncbi.nlm.nih.gov/pubmed/29859105
http://dx.doi.org/10.1186/s13023-018-0829-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984778/
https://www.ncbi.nlm.nih.gov/pubmed/29859105
http://dx.doi.org/10.1186/s13023-018-0829-z

Ejemplares similares