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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...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5984778/ https://ncbi.nlm.nih.gov/pubmed/29859105 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0829-z |
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