{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:16:45Z","timestamp":1789953405837,"version":"4.0.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T00:00:00Z","timestamp":1391472000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1007\/s10633-014-9427-0","type":"journal-article","created":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T09:55:15Z","timestamp":1391421315000},"page":"149-153","source":"Crossref","is-referenced-by-count":12,"title":["Ophthalmic findings in an infant with phosphomannomutase deficiency"],"prefix":"10.1007","volume":"128","author":[{"given":"Wyatt B.","family":"Messenger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E.","family":"Pennesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,4]]},"reference":[{"issue":"4","key":"9427_CR1","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1007\/s10545-011-9299-3","volume":"34","author":"J Jaeken","year":"2011","unstructured":"Jaeken J (2011) Congenital disorders of glycosylation (CDG): it\u2019s (nearly) all in it! J Inherit Metab Dis 34(4):853\u2013858. doi: 10.1007\/s10545-011-9299-3","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"9427_CR2","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1006\/mgme.1999.2914","volume":"68","author":"G Matthijs","year":"1999","unstructured":"Matthijs G, Schollen E, Heykants L, Grunewald S (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol Genet Metab 68(2):220\u2013226. doi: 10.1006\/mgme 1999.2914","journal-title":"Mol Genet Metab"},{"key":"9427_CR3","unstructured":"Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd edn. Cold Spring Harbor Press, Cold Spring Harbor, NY"},{"key":"9427_CR4","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1146\/annurev.genom.2.1.129","volume":"2","author":"J Jaeken","year":"2001","unstructured":"Jaeken J, Matthijs G (2001) Congenital disorders of glycosylation. Annu Rev Genomic Hum Genet 2:129\u2013151. doi: 10.1146\/annurev.genom.2.1.129","journal-title":"Annu Rev Genomic Hum Genet"},{"issue":"1","key":"9427_CR5","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0002-9394(14)76218-X","volume":"112","author":"S Andreasson","year":"1991","unstructured":"Andreasson S, Blennow G, Ehinger B, Stromland K (1991) Full-field electroretinogram in patients with the carbohydrate-deficient glycoprotein syndrome. Am J Ophthalmol 112(1):83\u201386","journal-title":"Am J Ophthalmol"},{"issue":"11","key":"9427_CR6","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1136\/bjo.78.11.845","volume":"78","author":"A Fiumara","year":"1994","unstructured":"Fiumara A, Barone R, Buttitta P, Di Pietro M, Scuderi A, Nigro F, Jaeken J (1994) Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. Br J Ophthalmol 78(11):845\u2013846","journal-title":"Br J Ophthalmol"},{"issue":"10","key":"9427_CR7","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1136\/bjo.80.10.900","volume":"80","author":"I Casteels","year":"1996","unstructured":"Casteels I, Spileers W, Leys A, Lagae L, Jaeken J (1996) Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14\u00a0years. Br J Ophthalmol 80(10):900\u2013902","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"9427_CR8","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1076\/opge.24.2.81.13994","volume":"24","author":"H Jensen","year":"2003","unstructured":"Jensen H, Kjaergaard S, Klie F, Moller HU (2003) Ophthalmic manifestations of congenital disorder of glycosylation type 1a. Ophthalmic Genet 24(2):81\u201388","journal-title":"Ophthalmic Genet"},{"issue":"3","key":"9427_CR9","doi-asserted-by":"crossref","first-page":"179","DOI":"10.3928\/0191-3913-20030501-18","volume":"40","author":"O Laplace","year":"2003","unstructured":"Laplace O, Voegtle R, Rigolet MH, Bourcier T, Nordmann JP (2003) Early ocular manifestations in an infant with carbohydrate-deficient glycoprotein syndrome type Ia. J Pediatr Ophthalmol Strabismus 40(3):179\u2013181","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"9427_CR10","doi-asserted-by":"crossref","unstructured":"Thompson DA, Lyons RJ, Liasis A, Russell-Eggitt I, J\u00e4gle H, Gr\u00fcnewald S (2012) Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency. Arch Ophthalmol 130(6):712\u2013719. doi: 10.1001\/archophthalmol.2012.130","DOI":"10.1001\/archophthalmol.2012.130"},{"issue":"6","key":"9427_CR11","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s10545-013-9594-2","volume":"36","author":"DA Thompson","year":"2013","unstructured":"Thompson DA, Lyons RJ, Russell-Eggitt I, Liasis A, Jagle H, Grunewald S (2013) Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG. J Inherit Metab Dis 36(6):1039\u20131047. doi: 10.1007\/s10545-013-9594-2","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"9427_CR12","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ng0597-88","volume":"16","author":"G Matthijs","year":"1997","unstructured":"Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16(1):88\u201392. doi: 10.1038\/ng0597-88","journal-title":"Nat Genet"},{"issue":"1","key":"9427_CR13","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1460-9592.2010.03462.x","volume":"21","author":"K Lalwani","year":"2011","unstructured":"Lalwani K, Tompkins BD, Burnes K, Krahmer MR, Pennesi ME, Weleber RG (2011) The \u2018dark\u2019 side of sedation: 12\u00a0years of office-based pediatric deep sedation for electroretinography in the dark. Paediatr Anaesth 21(1):65\u201371. doi: 10.1111\/j.1460-9592.2010.03462.x","journal-title":"Paediatr Anaesth"},{"key":"9427_CR14","unstructured":"Pennesi ME, Stover NB, Johnsen S, Tompkins BD, Krahmer MR, Lalwani K, Weleber RG (2009) Results from a 12\u00a0year experience with propofol for sedated ERGs. In: International Society for Clinical Electrophysiology of Vision, Springer, Padua, Italy"},{"issue":"8","key":"9427_CR15","doi-asserted-by":"crossref","first-page":"4644","DOI":"10.1167\/iovs.12-9611","volume":"53","author":"ME Pennesi","year":"2012","unstructured":"Pennesi ME, Michaels KV, Magee SS, Maricle A, Davin SP, Garg AK, Gale MJ, Tu DC, Wen Y, Erker LR, Francis PJ (2012) Long-term characterization of retinal degeneration in rd1 and rd10 mice using spectral domain optical coherence tomography. Invest Ophthalmol Vis Sci 53(8):4644\u20134656. doi: 10.1167\/iovs.12-9611","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"9427_CR16","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10633-008-9155-4","volume":"118","author":"MF Marmor","year":"2009","unstructured":"Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118(1):69\u201377. doi: 10.1007\/s10633-008-9155-4","journal-title":"Doc Ophthalmol"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-014-9427-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10633-014-9427-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-014-9427-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T04:17:05Z","timestamp":1565151425000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10633-014-9427-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,4]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["9427"],"URL":"https:\/\/doi.org\/10.1007\/s10633-014-9427-0","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,4]]}}}