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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Matlach, Juliane, Zindel, Thea, Amraoui, Yasmina, Arash-Kaps, Laila, Hennermann, Julia B., Pitz, Susanne
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Research
Online adgang: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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