{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:02:18Z","timestamp":1790550138725,"version":"4.1.0"},"reference-count":100,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,4,1]],"date-time":"2015-04-01T00:00:00Z","timestamp":1427846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1016\/j.ymgme.2015.01.012","type":"journal-article","created":{"date-parts":[[2015,2,19]],"date-time":"2015-02-19T01:35:16Z","timestamp":1424309716000},"page":"537-546","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":46,"title":["Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance"],"prefix":"10.1016","volume":"114","author":[{"given":"James D.","family":"Weisfeld-Adams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily A.","family":"McCourt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George A.","family":"Diaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott C.","family":"Oliver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2015.01.012_bb0005","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2009.09.008","article-title":"Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte","volume":"99","author":"Weisfeld-Adams","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0010","doi-asserted-by":"crossref","first-page":"14551","DOI":"10.1073\/pnas.0805989105","article-title":"Decyanation of vitamin B12 by a trafficking chaperone","volume":"105","author":"Kim","year":"2008","journal-title":"PNAS"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0015","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ophtha.2010.06.039","article-title":"General health-related quality of life in preschool children with strabismus or amblyopia","volume":"118","author":"Wen","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0020","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.jaapos.2008.06.008","article-title":"Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type","volume":"12","author":"Gerth","year":"2008","journal-title":"J. AAPOS"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0025","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1002\/ajmg.a.31671","article-title":"Late-onset cobalamin-C disorder: a challenging diagnosis","volume":"143A","author":"Ben-Omran","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0030","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ymgme.2013.07.018","article-title":"Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type","volume":"110","author":"Weisfeld-Adams","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0035","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1007\/s10545-014-9687-6","article-title":"Clinical presentation and outcome in a series of 88 patients with the cblC defect","volume":"37","author":"Fischer","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0040","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1056\/NEJM198408163110707","article-title":"Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy","volume":"311","author":"Shinnar","year":"1984","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0045","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajmg.10499","article-title":"Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy","volume":"111","author":"Van Hove","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0050","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ophtha.2013.08.034","article-title":"Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type","volume":"121","author":"Gizicki","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0055","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1080\/13816810500481758","article-title":"The natural history of retinal degeneration in association with cobalamin C (cbl C) disease","volume":"27","author":"Schimel","year":"2006","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0060","doi-asserted-by":"crossref","first-page":"2430","DOI":"10.1002\/ajmg.a.31932","article-title":"Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbances","volume":"143A","author":"Tsai","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0065","article-title":"Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation","author":"Liu","year":"2014","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0070","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1186\/s13023-014-0161-1","article-title":"When to inborn errors of metabolism beyond infancy: three new cases and a review of the literature illustrating the clinical spectrum in the late-onset cblC defect","volume":"9","author":"Huemer","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0075","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S0002-9394(14)74863-9","article-title":"Epileptiform ocular movements with methylmalonic aciduria and homocystinuria","volume":"90","author":"Cogan","year":"1980","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0080","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/S0022-3476(86)80882-4","article-title":"Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria","volume":"108","author":"Mitchell","year":"1986","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0085","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/ajmg.1320360208","article-title":"Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (cblC type)","volume":"36","author":"Brandstetter","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0090","first-page":"180","article-title":"Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria","volume":"24","author":"Ticho","year":"1992","journal-title":"Ann. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0095","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1016\/S0022-3476(05)81967-5","article-title":"Cobalamin C defect associated with hemolytic-uremic syndrome","volume":"120","author":"Geraghty","year":"1992","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0100","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/S0002-9394(14)71578-8","article-title":"Ocular histopathologic consequences of cblC type vitamin B12 defect with methylmalonic aciduria and homocystinuria","volume":"113","author":"Traboulsi","year":"1992","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0105","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0046-8177(92)90127-O","article-title":"A congenital anomaly of B12 metabolism: a study of three cases","volume":"23","author":"Russo","year":"1992","journal-title":"Hum. Pathol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0110","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1023\/A:1005508620919","article-title":"Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family","volume":"22","author":"Augoustides-Savvopoulou","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0115","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1076\/1381-6810(200009)21:3;1-Z;FT151","article-title":"Optic atrophy in association with cobalamin C (cblC) disease","volume":"21","author":"Patton","year":"2000","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0120","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1097\/00043426-200205000-00023","article-title":"Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period","volume":"24","author":"Kind","year":"2002","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0125","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1007\/s00431-004-1440-y","article-title":"An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal hemorrhages and subdural haematoma mimicking non-accidental injury","volume":"163","author":"Francis","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0130","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1055\/s-2005-865609","article-title":"Assessment of visual function in children with methylmalonic aciduria and homocystinuria","volume":"36","author":"Ricci","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0135","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1001\/archopht.123.8.1143","article-title":"Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria","volume":"123","author":"Tsina","year":"2005","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0140","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1007\/s00467-007-0604-1","article-title":"Hemolytic-uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder","volume":"22","author":"Sharma","year":"2007","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0145","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1055\/s-2008-1027310","article-title":"Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (cblC): a spectrum of disorders","volume":"225","author":"Gaillard","year":"2008","journal-title":"Klin. Monbl. Augenheilkd."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0150","article-title":"Maculopathy due to cobalamin C (cblC) disease in an Amish child","author":"Grant","year":"2009","journal-title":"J. Pediatr. Ophthalmol. Strabismus"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0155","doi-asserted-by":"crossref","DOI":"10.3109\/13816810.2014.885059","article-title":"Retinal structure in cobalamin C disease: mechanistic and therapeutic implications","author":"Aleman","year":"2014","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0160","article-title":"Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?","author":"Weisfeld-Adams","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0165","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1212\/WNL.56.8.1113","article-title":"Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)","volume":"56","author":"Bodamer","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0170","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/ana.78","article-title":"Neurological and neuropathological heterogeneity in two brothers with cobalamin C deficiency","volume":"49","author":"Powers","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0175","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1007\/s00467-002-0895-1","article-title":"Cobalamin C deficiency complicated by an atypical glomerulopathy","volume":"17","author":"Brunelli","year":"2002","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0180","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1001\/archneur.60.10.1457","article-title":"Neuropsychiatric disturbances in presumed late-onset cobalamin C disease","volume":"60","author":"Roze","year":"2003","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0185","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1136\/jnnp.2007.133025","article-title":"The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum","volume":"79","author":"Thauvin-Robinet","year":"2008","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0190","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1212\/01.WNL.0000158476.74580.A8","article-title":"Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment","volume":"64","author":"Boxer","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0195","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1007\/s10545-007-0546-6","article-title":"Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)","volume":"30","author":"Heil","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0200","doi-asserted-by":"crossref","first-page":"2547","DOI":"10.1007\/s00467-010-1609-8","article-title":"CD-46 associated atypical hemolytic-uremic syndrome with uncommon course caused by cblC deficiency","volume":"25","author":"Bouts","year":"2010","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0205","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jns.2012.04.012","article-title":"A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China","volume":"318","author":"Wang","year":"2012","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0210","first-page":"633","article-title":"T: Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation, Turkish","volume":"55","author":"Kilic","year":"2013","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0215","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1053\/j.ajkd.2013.08.031","article-title":"Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency","volume":"63","author":"Cornec-Le Gall","year":"2013","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0220","series-title":"JIMD Reports","doi-asserted-by":"crossref","DOI":"10.1007\/8904_2013_225","article-title":"Novel deletion mutation identified in a patient with late-onset combined methylmalonic academia and homocystinuria, cblC type","author":"Backe","year":"2013"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0225","doi-asserted-by":"crossref","first-page":"e540","DOI":"10.1542\/peds.2012-2581","article-title":"Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency","volume":"132","author":"K\u00f6mhoff","year":"2013","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0230","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1007\/s00431-014-2330-6","article-title":"Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the cblC gene","volume":"173","author":"G\u00fcnd\u00fcz","year":"2014","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0235","doi-asserted-by":"crossref","first-page":"e202","DOI":"10.1542\/peds.2013-1427","article-title":"A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male","volume":"135","author":"Krueger","year":"2015","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0240","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng1683","article-title":"Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type","volume":"38","author":"Lerner-Ellis","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0245","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/0002-9394(84)90499-9","article-title":"Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities","volume":"97","author":"Robb","year":"1984","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0250","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0002-9394(77)90187-8","article-title":"Macular colobomas in Leber's congenital amaurosis","volume":"83","author":"Margolis","year":"1977","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0255","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.jaapos.2012.02.019","article-title":"Ocular manifestations of cobalamin C type methylmalonic aciduria and homocystinuria","volume":"16","author":"Fuchs","year":"2012","journal-title":"J. AAPOS"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0260","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.jpeds.2005.04.040","article-title":"Prenatal and postnatal treatment in cblC defect","volume":"147","author":"Huemer","year":"2005","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0265","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1023\/A:1005517727451","article-title":"Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin","volume":"22","author":"Enns","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"issue":"Suppl. 3","key":"10.1016\/j.ymgme.2015.01.012_bb0270","doi-asserted-by":"crossref","first-page":"S199","DOI":"10.1007\/s10545-010-9084-8","article-title":"Optic neuropathy in methylmalonic acidemia: the role of neuroprotection","volume":"33","author":"Pinar-Sueiro","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0275","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.ajo.2008.12.024","article-title":"Late onset optic neuropathy in methylmalonic and propionic acidemia","volume":"147","author":"Williams","year":"2009","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0280","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/s00417-004-1044-2","article-title":"Disturbed visual system function in methionine synthase deficiency","volume":"243","author":"Poloschek","year":"2005","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgme.2015.01.012_bb0285","doi-asserted-by":"crossref","first-page":"S77","DOI":"10.1007\/PL00014307","article-title":"Remethylation defects: guidelines for clinical diagnosis and treatment","volume":"157","author":"Ogier de Baulny","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0290","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10545-011-9365-x","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0295","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1097\/00006982-200512000-00010","article-title":"Short-term inter-visit variability of ERG amplitudes in normal subjects and patients with retinitis pigmentosa","volume":"25","author":"Fishman","year":"2005","journal-title":"Retina"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0300","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1038\/86589","article-title":"Ultrahigh-resolution ophthalmic optical coherence tomography","volume":"7","author":"Drexler","year":"2001","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0305","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.jaapos.2012.08.011","article-title":"Longitudinal reproducibility of optical coherence tomography measurements in children","volume":"16","author":"Prakalapakorn","year":"2012","journal-title":"J. AAPOS"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0310","first-page":"S1875","article-title":"Nystagmus in childhood","author":"Papageorgiou","year":"2014","journal-title":"Pediatr. Neonatol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0315","unstructured":"N.P. Achilly, J.L. Sloan, K.S. Bishop, M.S. Jones, V.J. Hoffman, R.B. Sood, C.P. Venditti, A zebrafish model of cblC disease displays growth retardation that improves with vitamin B12 therapy, Proceedings from American Society Human Genetics 2013 annual meeting, Boston, MA, USA [abstract]."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0320","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1001\/archophthalmol.2007.21","article-title":"Retinopathy in inherited transcobalamin II deficiency","volume":"126","author":"Dharmasena","year":"2008","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0325","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2013.07.022","article-title":"An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1","volume":"93","author":"Yu","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0330","first-page":"848","article-title":"Protective effects of methylcobalamin, a vitamin B12 analog, against glutamate-induced neurotoxicity in retinal cell culture","volume":"38","author":"Kikuchi","year":"1997","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0335","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/bdra.10014","article-title":"High exogenous homocysteine modifies eye development in early chick embryos","volume":"67","author":"Maestro de las Casas","year":"2003","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0340","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1097\/00006982-200601000-00011","article-title":"Moderate hyperhomocysteinemia and early-onset central retinal vein occlusion","volume":"26","author":"Lattanzio","year":"2006","journal-title":"Retina"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0345","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1177\/030006051204000532","article-title":"The association between serum homocysteine levels and retinopathy of prematurity","volume":"40","author":"Sarici","year":"2012","journal-title":"J. Int. Med. Res."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0350","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.ajo.2006.08.032","article-title":"Elevated serum homocysteine, low serum B12, folate, and age-related macular degeneration: the Blue Mountains Eye Study","volume":"143","author":"Rochtchina","year":"2007","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0355","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1097\/IAE.0b013e31816079fb","article-title":"Plasma and vitreous homocysteine concentrations in patients with proliferative diabetic retinopathy","volume":"28","author":"Aydemir","year":"2008","journal-title":"Retina"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0360","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/IJG.0b013e31816f7631","article-title":"Plasma homocysteine, MTHFR gene mutation, and open-angle glaucoma","volume":"18","author":"Clement","year":"2009","journal-title":"J. Glaucoma"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0365","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/0002-9394(73)91149-5","article-title":"Ocular manifestations in the Marfan syndrome and homocystinuria","volume":"75","author":"Cross","year":"1973","journal-title":"Am J. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0370","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s10545-013-9605-3","article-title":"Glutathione metabolism in cobalamin deficiency type C (cblC)","volume":"37","author":"Pastore","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0375","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ymgme.2006.02.007","article-title":"Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12","volume":"88","author":"Smith","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0380","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1055\/s-2005-873057","article-title":"MRI and 1H-MRS findings in early-onset cobalamin C\/D defect","volume":"36","author":"Longo","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0385","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.3109\/02713683.2011.607536","article-title":"Mitochondrial dysfunction in retinal diseases","volume":"36","author":"Barot","year":"2011","journal-title":"Curr. Eye Res."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0390","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ymgme.2009.06.007","article-title":"Profiling of oxidative stress in patients with inborn errors of metabolism","volume":"98","author":"McGuire","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0395","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/0006-2944(70)90080-3","article-title":"Homocystinuria with methylmalonic aciduria: two cases in a sibship","volume":"4","author":"Goodman","year":"1970","journal-title":"Biochem. Med."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0400","doi-asserted-by":"crossref","first-page":"42742","DOI":"10.1074\/jbc.M407733200","article-title":"The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis","volume":"279","author":"Suormala","year":"2004","journal-title":"J. Biol. Chem."},{"issue":"358","key":"10.1016\/j.ymgme.2015.01.012_bb0405","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1056\/NEJMoa072200","article-title":"Gene identification for the cblD defect of vitamin B12 metabolism","volume":"2008","author":"Coelho","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0410","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.jpeds.2008.10.043","article-title":"Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism","volume":"154","author":"Miousse","year":"2009","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0415","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/8904_2014_340","article-title":"Clinical, biochemical, and molecular presentation in a patient with the cblD-homocystinuria inborn error of cobalamin metabolism","volume":"17","author":"Atkinson","year":"2014","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0420","doi-asserted-by":"crossref","first-page":"2571","DOI":"10.1002\/ajmg.a.34220","article-title":"Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review","volume":"155","author":"Alfadhel","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0425","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/ng.294","article-title":"Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B(12) metabolism","volume":"41","author":"Rutsch","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0430","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.ymgme.2011.01.002","article-title":"Novel splice site mutations and a large deletion in three patients with the cblF inborn error of B12 metabolism","volume":"102","author":"Miousse","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0435","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1023\/A:1005353530303","article-title":"Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)","volume":"20","author":"Rosenblatt","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0440","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ymgme.2006.04.001","article-title":"Combined methylmalonic aciduria and homocystinuria (cblC): phenotype\u2013genotype correlations and ethnic specific observations","volume":"88","author":"Morel","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0445","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/s10545-010-9217-0","article-title":"Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China","volume":"33","author":"Wang","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0450","first-page":"76","article-title":"Beneficial effect of antioxidants in retinopathies: a new hypothesis","volume":"1","author":"Panfoli","year":"2012","journal-title":"Med. Hypothesis Discov. Innov. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0455","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1016\/j.jnutbio.2009.10.010","article-title":"\u03b1-Tocopherol is an effective phase II enzyme inducer: protective effects on acrolein-induced oxidative stress and mitochondrial dysfunction in human retinal pigment epithelial cells","volume":"21","author":"Feng","year":"2010","journal-title":"J. Nutr. Biochem."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0460","doi-asserted-by":"crossref","first-page":"e21926","DOI":"10.1371\/journal.pone.0021926","article-title":"Orally active multi-functional antioxidants are neuroprotective in a rat model of light-induced retinal damage","volume":"6","author":"Randazzo","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2015.01.012_bb0465","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1002\/jcp.22532","article-title":"Modulation of oxidative stress responses in the human retinal pigment epithelium following treatment with vitamin C","volume":"226","author":"Yin","year":"2011","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0470","first-page":"1471","article-title":"Efficacy of various antioxidants in the protection of the retinal pigment epithelium from oxidative stress","volume":"6","author":"Kagan","year":"2012","journal-title":"Clin. Ophthalmol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0475","first-page":"760","article-title":"Pinosylvin-mediated protection against oxidative stress in human retinal pigment epithelial cells","volume":"20","author":"Koskela","year":"2014","journal-title":"Mol. Vis."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0480","doi-asserted-by":"crossref","first-page":"4628","DOI":"10.1167\/iovs.13-13732","article-title":"Fullerenol protects retinal pigment epithelial cells from oxidative stress-induced premature senescence via activating SIRT1","volume":"55","author":"ZhuGe","year":"2014","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0485","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.exer.2013.07.017","article-title":"The role of SIRT1 in ocular aging","volume":"116","author":"Mimura","year":"2013","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0490","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1016\/j.ajpath.2011.01.036","article-title":"N-acetylcysteine amide (NACA) prevents retinal degeneration by up-regulating reduced glutathione production and reversing lipid peroxidation","volume":"178","author":"Schimel","year":"2011","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0495","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1001\/archneurol.2011.2972","article-title":"Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy","volume":"69","author":"Sadun","year":"2012","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2015.01.012_bb0500","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1167\/iovs.07-0880","article-title":"Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids","volume":"49","author":"Ghelli","year":"2008","journal-title":"Invest. Ophthalmol. Vis. Sci."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719215000347?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719215000347?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,25]],"date-time":"2018-09-25T01:52:27Z","timestamp":1537840347000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719215000347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":100,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["S1096719215000347"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2015.01.012","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2015.01.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}