{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T00:10:01Z","timestamp":1792195801123,"version":"4.4.0"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.ejpn.2024.02.006","type":"journal-article","created":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T05:42:38Z","timestamp":1707975758000},"page":"66-72","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency"],"prefix":"10.1016","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-1388","authenticated-orcid":false,"given":"Y\u0131lmaz","family":"Y\u0131ld\u0131z","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7054-3623","authenticated-orcid":false,"given":"Didem","family":"Ard\u0131\u00e7l\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0223-9336","authenticated-orcid":false,"given":"Rah\u015fan","family":"G\u00f6\u00e7men","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9294-4305","authenticated-orcid":false,"given":"Dilek","family":"Yaln\u0131zo\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0484-8888","authenticated-orcid":false,"given":"Meral","family":"Top\u00e7u","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9589-0445","authenticated-orcid":false,"given":"Turgay","family":"Co\u015fkun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2812-9319","authenticated-orcid":false,"given":"Ay\u015feg\u00fcl","family":"Tokatl\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1813-275X","authenticated-orcid":false,"given":"G\u00f6knur","family":"Halilo\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejpn.2024.02.006_bib1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1002\/ajmg.c.30292","article-title":"Disorders of creatine transport and metabolism","volume":"157C","author":"Longo","year":"2011","journal-title":"Am J. Med. Genet C Semin Med. Genet"},{"issue":"Suppl 3","key":"10.1016\/j.ejpn.2024.02.006_bib2","article-title":"Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment","volume":"17","author":"Leuzzi","year":"2002","journal-title":"J.\u00a0Child Neurol."},{"issue":"1","key":"10.1016\/j.ejpn.2024.02.006_bib3","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.ymgme.2008.10.008","article-title":"Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency","volume":"96","author":"Dhar","year":"2009","journal-title":"Mol. Genet. Metabol."},{"issue":"3","key":"10.1016\/j.ejpn.2024.02.006_bib4","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1212\/01.wnl.0000234852.43688.bf","article-title":"GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis","volume":"67","author":"Mercimek-Mahmutoglu","year":"2006","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ejpn.2024.02.006_bib5","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.ymgme.2013.10.018","article-title":"Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring","volume":"111","author":"Stockler-Ipsiroglu","year":"2014","journal-title":"Mol. Genet. Metabol."},{"issue":"4","key":"10.1016\/j.ejpn.2024.02.006_bib6","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1684\/epd.2013.0609","article-title":"Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency","volume":"15","author":"Mikati","year":"2013","journal-title":"Epileptic Disord."},{"issue":"9","key":"10.1016\/j.ejpn.2024.02.006_bib7","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1212\/WNL.55.9.1407","article-title":"Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)","volume":"55","author":"Leuzzi","year":"2000","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ejpn.2024.02.006_bib8","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ymgme.2005.09.017","article-title":"A\u00a0mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme","volume":"87","author":"Leuzzi","year":"2006","journal-title":"Mol. Genet. Metabol."},{"issue":"2","key":"10.1016\/j.ejpn.2024.02.006_bib9","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ana.10455","article-title":"Lack of creatine in muscle and brain in an adult with GAMT deficiency","volume":"53","author":"Schulze","year":"2003","journal-title":"Ann. Neurol."},{"issue":"4","key":"10.1016\/j.ejpn.2024.02.006_bib10","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1111\/epi.13670","article-title":"Operational classification of seizure types by the international League against epilepsy: position paper of the ILAE commission for classification and terminology","volume":"58","author":"Fisher","year":"2017","journal-title":"Epilepsia"},{"issue":"3","key":"10.1016\/j.ejpn.2024.02.006_bib11","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ejpn.2018.02.007","article-title":"Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: an international retrospective cohort study","volume":"22","author":"Khaikin","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"3","key":"10.1016\/j.ejpn.2024.02.006_bib12","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1203\/00006450-199409000-00023","article-title":"Creatine deficiency in the brain: a new, treatable inborn error of metabolism","volume":"36","author":"Stockler","year":"1994","journal-title":"Pediatr. Res."},{"issue":"3","key":"10.1016\/j.ejpn.2024.02.006_bib13","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s13760-019-01168-6","article-title":"Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review","volume":"120","author":"Rostami","year":"2019","journal-title":"Acta Neurol. Belg."},{"issue":"4","key":"10.1016\/j.ejpn.2024.02.006_bib14","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.22511","article-title":"Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene","volume":"35","author":"Mercimek-Mahmutoglu","year":"2014","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.ejpn.2024.02.006_bib15","first-page":"914","article-title":"Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man","volume":"58","author":"Stockler","year":"1996","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejpn.2024.02.006_bib16","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ajmg.a.30226","article-title":"Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation","volume":"133A","author":"Caldeira Araujo","year":"2005","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejpn.2024.02.006_bib17","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/epi.12020","article-title":"Inborn errors of creatine metabolism and epilepsy","volume":"54","author":"Leuzzi","year":"2013","journal-title":"Epilepsia"},{"issue":"4","key":"10.1016\/j.ejpn.2024.02.006_bib18","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.spen.2016.11.006","article-title":"Epilepsy in inborn errors of metabolism with therapeutic options","volume":"23","author":"Campistol","year":"2016","journal-title":"Semin. Pediatr. Neurol."},{"issue":"5","key":"10.1016\/j.ejpn.2024.02.006_bib19","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1002\/nbm.1367","article-title":"Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids","volume":"22","author":"Engelke","year":"2009","journal-title":"NMR Biomed."},{"key":"10.1016\/j.ejpn.2024.02.006_bib20","article-title":"Adult GAMT deficiency: a literature review and report of two siblings","volume":"27","author":"Modi","year":"2021","journal-title":"Mol. Genet Metabol. Rep."},{"issue":"1\u20132","key":"10.1016\/j.ejpn.2024.02.006_bib21","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ymgme.2021.07.012","article-title":"Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency","volume":"134","author":"Hart","year":"2021","journal-title":"Mol. Genet. Metabol."},{"issue":"2","key":"10.1016\/j.ejpn.2024.02.006_bib22","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2023-062100","article-title":"Evidence and recommendation for guanidinoacetate methyltransferase deficiency newborn screening","volume":"152","author":"Ream","year":"2023","journal-title":"Pediatrics"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379824000138?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379824000138?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:41:45Z","timestamp":1761072105000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379824000138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":22,"alternative-id":["S1090379824000138"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2024.02.006","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2024.02.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}