{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T13:06:47Z","timestamp":1780319207939,"version":"3.54.1"},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.ymgmr.2019.100545","type":"journal-article","created":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T12:45:28Z","timestamp":1574340328000},"page":"100545","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia"],"prefix":"10.1016","volume":"21","author":[{"given":"Jacqueline A.","family":"Romero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imane","family":"Abdelmoumen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Hasbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya S.","family":"Khurana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ymgmr.2019.100545_bb0005","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1093\/jn\/129.4.779","article-title":"Folate metabolism and requirements","volume":"129","author":"Bailey","year":"1999","journal-title":"J. Nutr."},{"key":"10.1016\/j.ymgmr.2019.100545_bb0010","series-title":"OMIM","first-page":"4","article-title":"5,10-Methenyltetrahydrofolate Synthetase; MTHFS","author":"Sherman","year":"2019"},{"issue":"36","key":"10.1016\/j.ymgmr.2019.100545_bb0015","article-title":"Mthfs is an essential gene in mice and a component of the purinosome","volume":"2","author":"Field","year":"2011","journal-title":"Front. Genet."},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2019.100545_bb0020","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ymgme.2018.06.006","article-title":"5,10-Methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination","volume":"125","author":"Rodan","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgmr.2019.100545_bb0025","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2009.08.005","article-title":"Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism","volume":"85","author":"Steinfeld","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2019.100545_bb0030","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/s41598-017-01732-1","article-title":"Folate metabolism regulates oligodendrocyte survival and differentiation by modulating AMPK\u03b1 activity","volume":"7","author":"Weng","year":"2017","journal-title":"Sci. Rep."},{"issue":"1","key":"10.1016\/j.ymgmr.2019.100545_bb0035","first-page":"13","article-title":"The 5-formyltetrahydrofolate futile cycle reduces pathway stochasticity in an extended hybrid-stochastic model of folate-mediated one-carbon metabolism","volume":"9","author":"Misselback","year":"2019","journal-title":"Sci. Rep."},{"issue":"12","key":"10.1016\/j.ymgmr.2019.100545_bb0040","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1017\/S0007114515001142","article-title":"Folate status and concentrations of serum folate forms in the US population: National Health and Nutrition Examination Survey 2011-2","volume":"113","author":"Pfeiffer","year":"2015","journal-title":"Br. J. Nutr."},{"key":"10.1016\/j.ymgmr.2019.100545_bb0045","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.jpsychires.2015.10.003","article-title":"Neopterin as a potential cytoprotective brain molecule","volume":"71","author":"Ghisoni","year":"2015","journal-title":"J. Psychiatr. Res."},{"issue":"4","key":"10.1016\/j.ymgmr.2019.100545_bb0050","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/j.1469-8749.2008.03225.x","article-title":"Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation","volume":"51","author":"Dale","year":"2009","journal-title":"Dev. Med. Child Neurol."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426919301429?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426919301429?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:52:43Z","timestamp":1762001563000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426919301429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":10,"alternative-id":["S2214426919301429"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2019.100545","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2019.100545","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100545"}}