Dergi makalesi Açık Erişim
Paketci, C.; Edem, P.; Hiz, S.; Sonmezler, E.; Soydemir, D.; Uzan, G. Sarikaya; Oktay, Y.; O'Heir, E.; Beltran, S.; Laurie, S.; Topf, A.; Lochmuller, H.; Horvath, R.; Yis, U.
{ "conceptrecid": "5908", "created": "2021-03-15T06:18:08.036063+00:00", "doi": "10.1016/j.braindev.2020.04.008", "files": [ { "bucket": "10544b23-a102-452d-bf79-3a426a9a906a", "checksum": "md5:884a79f7b5e54f9a18e069b62a26e4af", "key": "bib-f5209007-dbe1-49ef-87a7-323b785b95ef.txt", "links": { "self": "https://aperta.ulakbim.gov.tr/api/files/10544b23-a102-452d-bf79-3a426a9a906a/bib-f5209007-dbe1-49ef-87a7-323b785b95ef.txt" }, "size": 308, "type": "txt" } ], "id": 5909, "links": { "badge": "https://aperta.ulakbim.gov.tr/badge/doi/10.1016/j.braindev.2020.04.008.svg", "bucket": "https://aperta.ulakbim.gov.tr/api/files/10544b23-a102-452d-bf79-3a426a9a906a", "doi": "https://doi.org/10.1016/j.braindev.2020.04.008", "html": "https://aperta.ulakbim.gov.tr/record/5909", "latest": "https://aperta.ulakbim.gov.tr/api/records/5909", "latest_html": "https://aperta.ulakbim.gov.tr/record/5909" }, "metadata": { "access_right": "open", "access_right_category": "success", "communities": [ { "id": "tubitak-destekli-proje-yayinlari" } ], "creators": [ { "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey", "name": "Paketci, C." }, { "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey", "name": "Edem, P." }, { "name": "Hiz, S." }, { "name": "Sonmezler, E." }, { "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey", "name": "Soydemir, D." }, { "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey", "name": "Uzan, G. Sarikaya" }, { "name": "Oktay, Y." }, { "name": "O'Heir, E." }, { "affiliation": "Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain", "name": "Beltran, S." }, { "affiliation": "Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain", "name": "Laurie, S." }, { "name": "Topf, A." }, { "name": "Lochmuller, H." }, { "affiliation": "Univ Cambridge, Dept Clin Neurosci, Cambridge, England", "name": "Horvath, R." }, { "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey", "name": "Yis, U." } ], "description": "Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.", "doi": "10.1016/j.braindev.2020.04.008", "has_grant": false, "journal": { "issue": "7", "pages": "539-545", "title": "BRAIN & DEVELOPMENT", "volume": "42" }, "license": { "id": "cc-by" }, "publication_date": "2020-01-01", "relations": { "version": [ { "count": 1, "index": 0, "is_last": true, "last_child": { "pid_type": "recid", "pid_value": "5909" }, "parent": { "pid_type": "recid", "pid_value": "5908" } } ] }, "resource_type": { "subtype": "article", "title": "Dergi makalesi", "type": "publication" }, "title": "Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG" }, "owners": [ 1 ], "revision": 1, "stats": { "downloads": 7.0, "unique_downloads": 7.0, "unique_views": 44.0, "version_downloads": 7.0, "version_unique_downloads": 7.0, "version_unique_views": 44.0, "version_views": 45.0, "version_volume": 2156.0, "views": 45.0, "volume": 2156.0 }, "updated": "2021-03-15T06:18:08.095382+00:00" }
Görüntülenme | 45 |
İndirme | 7 |
Veri hacmi | 2.2 kB |
Tekil görüntülenme | 44 |
Tekil indirme | 7 |