Retinal and optic nerve degeneration in α-mannosidosis

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dc.contributor.authorMatlach, Juliane
dc.contributor.authorZindel, Thea
dc.contributor.authorAmraoui, Yasmina
dc.contributor.authorArash-Kaps, Laila
dc.contributor.authorHennermann, Julia B.
dc.contributor.authorPitz, Susanne
dc.date.accessioned2018-10-17T13:35:58Z
dc.date.available2018-10-17T15:35:58Z
dc.date.issued2018
dc.description.abstractα-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 mainly opacities of the cornea and lens, strabismus, and ocular motility disorders. However, retinal and optic nerve degeneration have been rarely described.en_GB
dc.description.sponsorshipDFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin
dc.identifier.doihttp://doi.org/10.25358/openscience-292
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/294
dc.identifier.urnurn:nbn:de:hebis:77-publ-585093
dc.language.isoeng
dc.rightsCC-BY-4.0
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subject.ddc620 Ingenieurwissenschaften und Maschinenbaude_DE
dc.subject.ddc620 Engineering and allied operationsen_GB
dc.titleRetinal and optic nerve degeneration in α-mannosidosisen_GB
dc.typeZeitschriftenaufsatzde_DE
jgu.apc.price1819,21
jgu.journal.titleOrphanet journal of rare diseases
jgu.journal.volume13
jgu.organisation.departmentFB 04 Medizinde_DE
jgu.organisation.nameJohannes Gutenberg-Universität Mainzde_DE
jgu.organisation.number2700
jgu.organisation.placeMainz
jgu.organisation.rorhttps://ror.org/023b0x485
jgu.pages.alternativeArt. 88
jgu.publisher.doi10.1186/s13023-018-0829-z
jgu.publisher.issn1750-1172
jgu.publisher.nameBioMed Central
jgu.publisher.placeLondon
jgu.publisher.urihttp://dx.doi.org/10.1186/s13023-018-0829-z
jgu.publisher.year2018
jgu.rights.accessrightsopenAccessen_GB
jgu.subject.ddccode620
jgu.type.dinitypeArticleen_GB
jgu.type.resourceTexten_GB
jgu.type.versionPublished versionen_GB
opus.affiliatedZindel, Thea
opus.affiliatedPitz, Susanne
opus.date.accessioned2018-10-17T13:35:58Z
opus.date.available2018-10-17T15:35:58
opus.date.modified2018-11-28T08:45:16Z
opus.identifier.opusid58509
opus.institute.number0429
opus.institute.number0446
opus.metadataonlyfalse
opus.organisation.stringFB 04: Medizin: Kinderklinik und Kinderpoliklinik
opus.organisation.stringFB 04: Medizin: Augenklinik und Poliklinik
opus.subject.dfgcode00-000
opus.type.contenttypeKeine
opus.type.contenttypeNone

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