{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:39:11Z","timestamp":1790969951140,"version":"4.1.0"},"reference-count":11,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"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","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.nmd.2016.11.001","type":"journal-article","created":{"date-parts":[[2016,11,9]],"date-time":"2016-11-09T09:18:50Z","timestamp":1478683130000},"page":"94-97","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Pyruvate dehydrogenase-E1\u03b1 deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy"],"prefix":"10.1016","volume":"27","author":[{"given":"B\u00fclent","family":"Kara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya Mara\u015f","family":"Gen\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emek","family":"Uyur-Yal\u00e7\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayfer","family":"Sakarya-G\u00fcne\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U\u011fur","family":"Top\u00e7u","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serap","family":"M\u00fclayim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"24","key":"10.1016\/j.nmd.2016.11.001_bib0010","doi-asserted-by":"crossref","first-page":"16615","DOI":"10.1074\/jbc.R114.563148","article-title":"The pyruvate dehydrogenase complexes: structure-based function and regulation","volume":"289","author":"Patel","year":"2014","journal-title":"J Biol Chem"},{"issue":"3","key":"10.1016\/j.nmd.2016.11.001_bib0015","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K","article-title":"Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with pyruvate dehydrogenase complex deficiency","volume":"15","author":"Lissens","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2016.11.001_bib0020","series-title":"Atlas of inherited metabolic diseases","first-page":"359","article-title":"Deficiency of the pyruvate dehydrogenase complex","author":"Nyhan","year":"2012"},{"issue":"3","key":"10.1016\/j.nmd.2016.11.001_bib0025","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.ymgme.2012.09.001","article-title":"Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype","volume":"107","author":"DeBrosse","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"7","key":"10.1016\/j.nmd.2016.11.001_bib0030","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1136\/jnnp.2007.136630","article-title":"Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy","volume":"79","author":"Sedel","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"10.1016\/j.nmd.2016.11.001_bib0035","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1203\/00006450-199303000-00016","article-title":"E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy","volume":"33","author":"Bonne","year":"1993","journal-title":"Pediatr Res"},{"issue":"1","key":"10.1016\/j.nmd.2016.11.001_bib0040","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ymgme.2011.09.032","article-title":"The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients","volume":"105","author":"Patel","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"5","key":"10.1016\/j.nmd.2016.11.001_bib0045","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.ejpn.2015.04.008","article-title":"Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation","volume":"19","author":"Castiglioni","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2016.11.001_bib0050","first-page":"13","article-title":"Thiamine-responsive and non-responsive patients with PDHC-E1 deficiency: a retrospective assessment","volume":"15","author":"van Dongen","year":"2015","journal-title":"JIMD Rep"},{"issue":"6","key":"10.1016\/j.nmd.2016.11.001_bib0055","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1055\/s-2001-20404","article-title":"Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency","volume":"32","author":"Naito","year":"2011","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nmd.2016.11.001_bib0060","first-page":"107","article-title":"Pyruvate dehydrogenase-E1\u03b1 deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation","volume":"10","author":"Singhi","year":"2013","journal-title":"JIMD Rep"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896616300621?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896616300621?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:05:45Z","timestamp":1760774745000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896616300621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S0960896616300621"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2016.11.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pyruvate dehydrogenase-E1\u03b1 deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2016.11.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}