{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T06:55:09Z","timestamp":1778741709736,"version":"3.51.4"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2013,3,23]],"date-time":"2013-03-23T00:00:00Z","timestamp":1363996800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1007\/s11011-013-9398-y","type":"journal-article","created":{"date-parts":[[2013,3,22]],"date-time":"2013-03-22T07:23:39Z","timestamp":1363937019000},"page":"519-522","source":"Crossref","is-referenced-by-count":12,"title":["Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant"],"prefix":"10.1007","volume":"28","author":[{"given":"Seung Jin","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoo-Mi","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,3,23]]},"reference":[{"issue":"1","key":"9398_CR1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10545-010-9177-4","volume":"34","author":"HJ Blom","year":"2011","unstructured":"Blom HJ, Smulders Y (2011) Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. J Inherit Metab Dis 34(1):75\u201381. doi: 10.1007\/s10545-010-9177-4","journal-title":"J Inherit Metab Dis"},{"issue":"7","key":"9398_CR2","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1182\/blood-2006-02-005991","volume":"108","author":"S Dayal","year":"2006","unstructured":"Dayal S, Wilson KM, Leo L, Arning E, Bottiglieri T, Lentz SR (2006) Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia. Blood 108(7):2237\u20132243. doi: 10.1182\/blood-2006-02-005991","journal-title":"Blood"},{"issue":"2","key":"9398_CR3","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ymgme.2010.03.002","volume":"100","author":"T Forges","year":"2010","unstructured":"Forges T, Chery C, Audonnet S, Feillet F, Gueant JL (2010) Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. Mol Genet Metab 100(2):143\u2013148. doi: 10.1016\/j.ymgme.2010.03.002","journal-title":"Mol Genet Metab"},{"issue":"1","key":"9398_CR4","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/ng0595-111","volume":"10","author":"P Frosst","year":"1995","unstructured":"Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP et al (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10(1):111\u2013113. doi: 10.1038\/ng0595-111","journal-title":"Nat Genet"},{"issue":"5","key":"9398_CR5","first-page":"1052","volume":"56","author":"P Goyette","year":"1995","unstructured":"Goyette P, Frosst P, Rosenblatt DS, Rozen R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype\/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56(5):1052\u20131059","journal-title":"Am J Hum Genet"},{"issue":"2","key":"9398_CR6","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1006\/abio.2002.5709","volume":"306","author":"S Nakamura","year":"2002","unstructured":"Nakamura S, Aoshima T, Ikeda M, Sekido Y, Shimokata K, Niwa T (2002) Simultaneous detection of methylenetetrahydrofolate reductase gene polymorphisms, C677T and A1298C, by melting curve analysis with LightCycler. Anal Biochem 306(2):340\u2013343","journal-title":"Anal Biochem"},{"issue":"6","key":"9398_CR7","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/0887-8994(85)90076-1","volume":"1","author":"M Nishimura","year":"1985","unstructured":"Nishimura M, Yoshino K, Tomita Y, Takashima S, Tanaka J, Narisawa K, Kurobane I (1985) Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Pediatr Neurol 1(6):375\u2013378","journal-title":"Pediatr Neurol"},{"issue":"2","key":"9398_CR8","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1001\/archneurol.2009.333","volume":"67","author":"FD Testai","year":"2010","unstructured":"Testai FD, Gorelick PB (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol 67(2):148\u2013153. doi: 10.1001\/archneurol.2009.333","journal-title":"Arch Neurol"},{"issue":"6","key":"9398_CR9","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.braindev.2010.08.013","volume":"33","author":"M Tsuji","year":"2011","unstructured":"Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H (2011) 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant. Brain Dev 33(6):521\u2013524. doi: 10.1016\/j.braindev.2010.08.013","journal-title":"Brain Dev"},{"issue":"19","key":"9398_CR10","doi-asserted-by":"crossref","first-page":"e289","DOI":"10.1161\/01.CIR.0000165142.37711.E7","volume":"111","author":"EA Varga","year":"2005","unstructured":"Varga EA, Sturm AC, Misita CP, Moll S (2005) Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease. Circulation 111(19):e289\u2013e293. doi: 10.1161\/01.cir.0000165142.37711.e7","journal-title":"Circulation"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-013-9398-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11011-013-9398-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-013-9398-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T02:21:56Z","timestamp":1559355716000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11011-013-9398-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,23]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["9398"],"URL":"https:\/\/doi.org\/10.1007\/s11011-013-9398-y","relation":{},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"value":"0885-7490","type":"print"},{"value":"1573-7365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,23]]}}}