Please use this identifier to cite or link to this item:
http://doi.org/10.25358/openscience-292Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Matlach, Juliane | - |
| dc.contributor.author | Zindel, Thea | - |
| dc.contributor.author | Amraoui, Yasmina | - |
| dc.contributor.author | Arash-Kaps, Laila | - |
| dc.contributor.author | Hennermann, Julia B. | - |
| dc.contributor.author | Pitz, Susanne | - |
| dc.date.accessioned | 2018-10-17T13:35:58Z | - |
| dc.date.available | 2018-10-17T15:35:58Z | - |
| dc.date.issued | 2018 | - |
| dc.identifier.uri | https://openscience.ub.uni-mainz.de/handle/20.500.12030/294 | - |
| dc.description.abstract | 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 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.sponsorship | DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin | - |
| dc.language.iso | eng | - |
| dc.rights | CC BY | de_DE |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | - |
| dc.subject.ddc | 620 Ingenieurwissenschaften und Maschinenbau | de_DE |
| dc.subject.ddc | 620 Engineering and allied operations | en_GB |
| dc.title | Retinal and optic nerve degeneration in α-mannosidosis | en_GB |
| dc.type | Zeitschriftenaufsatz | de_DE |
| dc.identifier.urn | urn:nbn:de:hebis:77-publ-585093 | - |
| dc.identifier.doi | http://doi.org/10.25358/openscience-292 | - |
| jgu.type.dinitype | article | - |
| jgu.type.version | Published version | en_GB |
| jgu.type.resource | Text | - |
| jgu.organisation.department | FB 04 Medizin | - |
| jgu.organisation.number | 2700 | - |
| jgu.organisation.name | Johannes Gutenberg-Universität Mainz | - |
| jgu.rights.accessrights | openAccess | - |
| jgu.journal.title | Orphanet journal of rare diseases | - |
| jgu.journal.volume | 13 | - |
| jgu.pages.alternative | Art. 88 | - |
| jgu.publisher.year | 2018 | - |
| jgu.publisher.name | BioMed Central | - |
| jgu.publisher.place | London | - |
| jgu.publisher.uri | http://dx.doi.org/10.1186/s13023-018-0829-z | - |
| jgu.publisher.issn | 1750-1172 | - |
| jgu.organisation.place | Mainz | - |
| jgu.subject.ddccode | 620 | - |
| opus.date.accessioned | 2018-10-17T13:35:58Z | - |
| opus.date.modified | 2018-11-28T08:45:16Z | - |
| opus.date.available | 2018-10-17T15:35:58 | - |
| opus.subject.dfgcode | 00-000 | - |
| opus.organisation.string | FB 04: Medizin: Kinderklinik und Kinderpoliklinik | de_DE |
| opus.organisation.string | FB 04: Medizin: Augenklinik und Poliklinik | de_DE |
| opus.identifier.opusid | 58509 | - |
| opus.institute.number | 0429 | - |
| opus.institute.number | 0446 | - |
| opus.metadataonly | false | - |
| opus.type.contenttype | Keine | de_DE |
| opus.type.contenttype | None | en_GB |
| opus.affiliated | Zindel, Thea | - |
| opus.affiliated | Pitz, Susanne | - |
| jgu.publisher.doi | 10.1186/s13023-018-0829-z | |
| jgu.organisation.ror | https://ror.org/023b0x485 | |
| Appears in collections: | JGU-Publikationen | |
