{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T01:20:40Z","timestamp":1793409640473,"version":"4.5.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"American College of Medical Genetics Foundation\/Genzyme Corporation Fellowship Award"},{"name":"Kyle Thomas Colamaria Foundation"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.ymgme.2013.07.018","type":"journal-article","created":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T08:33:49Z","timestamp":1374741229000},"page":"241-247","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":82,"title":["Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type"],"prefix":"10.1016","volume":"110","author":[{"given":"James D.","family":"Weisfeld-Adams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Allison","family":"Bender","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Miley-\u00c5kerstedt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamiesha","family":"Frempong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina L.","family":"Schrager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keyur","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas P.","family":"Naidich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Stein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Spat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Towns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa P.","family":"Wasserstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Peter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yitzchak","family":"Frank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George A.","family":"Diaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2013.07.018_bb0005","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.2013.07.018_bb0010","first-page":"554","article-title":"Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings","volume":"22","author":"Rossi","year":"2001","journal-title":"Am. J. Neuroradiol."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0015","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.2013.07.018_bb0020","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.2013.07.018_bb0025","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s10545-011-9364-y","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0030","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.2013.07.018_bb0035","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.2013.07.018_bb0040","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 disturbance","volume":"143A","author":"Tsai","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0045","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.2013.07.018_bb0050","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1182\/blood.V55.4.570.570","article-title":"Congenital methylmalonic aciduria\u2013homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test","volume":"55","author":"Carmel","year":"1980","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0055","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/S0022-3476(88)80114-8","article-title":"Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria","volume":"112","author":"Bartholomew","year":"1988","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0060","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."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0065","series-title":"Bayley Scales of Infant Development\u2014II","author":"Bayley","year":"1993"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0070","series-title":"Wechsler Preschool and Primary Scale of Intelligence","author":"Wechsler","year":"2002"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0075","series-title":"Vineland Adaptive Behavior Scales, Interview Edition, Survey Form Manual: A Revision of the Vineland Social Maturity Scales","author":"Sparrow","year":"1984"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0080","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1053\/j.ajkd.2004.12.004","article-title":"Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation","volume":"45","author":"Guigonis","year":"2005","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0085","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.2013.07.018_bb0090","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1080\/13554790802032242","article-title":"Treatment responsive executive and behavioral dysfunction associated with vitamin B12 deficiency","volume":"14","author":"Akdal","year":"2008","journal-title":"Neurocase"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0095","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1212\/01.wnl.0000341272.48617.b0","article-title":"Biochemical indicators of vitamin B12 and folate insufficiency and cognitive decline","volume":"72","author":"Tangney","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0100","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1542\/peds.2011-1715","article-title":"Neurocognitive phenotype of isolated methylmalonic acidemia","volume":"129","author":"O'Shea","year":"2012","journal-title":"Pediatrics"},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2013.07.018_bb0105","doi-asserted-by":"crossref","first-page":"S327","DOI":"10.1007\/s10545-009-1284-8","article-title":"Cognitive and social profiles in two patients with cobalamin C disease","volume":"32","author":"Beauchamp","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0110","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.2013.07.018_bb0115","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/ana.20419","article-title":"Creatine metabolism in combined methylmalonic aciduria and homocystinuria","volume":"57","author":"Bodamer","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0120","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.2013.07.018_bb0125","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.jpeds.2005.04.040","article-title":"Prenatal and postnatal treatment in cobalamin C defect","volume":"147","author":"Huemer","year":"2005","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0130","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1212\/01.wnl.0000316391.40236.c3","article-title":"Reduced brain choline in homocystinuria due to remethylation defects","volume":"71","author":"Debray","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0135","doi-asserted-by":"crossref","first-page":"5923","DOI":"10.1073\/pnas.94.11.5923","article-title":"Neurotoxicity associated with dual actions of homocysteine at the N-methyl-d-aspartate receptor","volume":"94","author":"Lipton","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0140","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/sj.jp.7210955","article-title":"Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria\/hyperhomocysteinemia (cblC) in the neonate","volume":"23","author":"Harding","year":"2003","journal-title":"J. Perinatol."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2013.07.018_bb0145","doi-asserted-by":"crossref","first-page":"S115","DOI":"10.33549\/physiolres.930000.53.S115","article-title":"Excitatory amino acids and epileptic seizures in immature brain","volume":"53","author":"Mares","year":"2004","journal-title":"Physiol. Res."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0150","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1182\/blood-2005-06-2506","article-title":"Elevated levels of homocysteine compromise blood\u2013brain barrier integrity in mice","volume":"107","author":"Kamath","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2013.07.018_bb0155","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1056\/NEJMoa011613","article-title":"Plasma homocysteine as a risk factor for dementia and Alzheimer's disease","volume":"346","author":"Seshradi","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0160","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/BF02343237","article-title":"Vitamin B12 and brain development","volume":"146","author":"Stollhoff","year":"1987","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0165","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1007\/s00431-010-1371-8","article-title":"Cobalamin C defect presenting as severe neonatal hyperammonemia","volume":"170","author":"Martinelli","year":"2011","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0170","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.2013.07.018_bb0175","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1002\/humu.21107","article-title":"Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)","volume":"30","author":"Richard","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0180","article-title":"Glutathione metabolism in cobalamin deficiency type C (cblC)","author":"Pastore","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0185","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1034\/j.1600-0609.2001.t01-1-00507.x","article-title":"Human cobalamin deficiency: alterations in serum tumor necrosis factor-\u03b1 and epidermal growth factor","volume":"67","author":"Perrachi","year":"2001","journal-title":"Eur. J. Haematol."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0190","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1111\/j.1753-4887.2008.00031.x","article-title":"Effect of vitamin B12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms","volume":"66","author":"Dror","year":"2013","journal-title":"Nutr. Rev."},{"key":"10.1016\/j.ymgme.2013.07.018_bb0195","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1080\/00221325.2010.506604","article-title":"Cognitive and behavioral function in Coffin\u2013Siris syndrome and epilepsy: a case presentation","volume":"172","author":"Bender","year":"2011","journal-title":"J. Genet. Psychol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213002667?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213002667?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T09:12:22Z","timestamp":1715764342000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719213002667"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S1096719213002667"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.07.018","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.07.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}