{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T21:45:00Z","timestamp":1791755100196,"version":"4.3.4"},"reference-count":14,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]},{"name":"E-Rare","award":["FWF I 920-B13"],"award-info":[{"award-number":["FWF I 920-B13"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1016\/j.ymgme.2014.09.010","type":"journal-article","created":{"date-parts":[[2014,10,5]],"date-time":"2014-10-05T20:33:14Z","timestamp":1412541194000},"page":"301-306","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":61,"title":["Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations"],"prefix":"10.1016","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8527-2210","authenticated-orcid":false,"given":"Siddharth","family":"Banka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"de Goede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wyatt W.","family":"Yue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.M.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"von Bremen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate E.","family":"Chandler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 G.","family":"Feichtinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasaim","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Lunzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavinija","family":"Matakovi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Makowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Otfried","family":"Debus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuto","family":"Nosaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemant","family":"Sonwalkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz A.","family":"Zimmermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Sperl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes A.","family":"Mayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2014.09.010_bb0005","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1006\/jmbi.2001.4727","article-title":"Crystal structure of thiamin pyrophosphokinase","volume":"310","author":"Timm","year":"2001","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0010","first-page":"1","article-title":"Defects of thiamine transport and metabolism","author":"Brown","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0015","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1016\/j.ajhg.2011.11.007","article-title":"Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway","volume":"89","author":"Mayr","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0020","doi-asserted-by":"crossref","first-page":"156","DOI":"10.3177\/jnsv.49.156","article-title":"Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase","volume":"49","author":"Onozuka","year":"2003","journal-title":"J. Nutr. Sci. Vitaminol."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0025","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1212\/WNL.49.6.1655","article-title":"Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations","volume":"49","author":"Wexler","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2014.09.010_bb0030","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/10372","article-title":"Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness","volume":"22","author":"Labay","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0035","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1086\/431216","article-title":"Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3","volume":"77","author":"Zeng","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0040","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1002\/ajmg.10529","article-title":"Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2\u2010ketoglutaric aciduria","volume":"112","author":"Kelley","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0045","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/ana.21752","article-title":"SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis","volume":"66","author":"Spiegel","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0050","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ymgmr.2013.12.007","article-title":"Thiamine pyrophosphokinase deficiency causes a Leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies","volume":"1","author":"Fraser","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0055","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1111\/j.1469-8749.2011.04151.x","article-title":"Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility: case report","volume":"54","author":"Giribaldi","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0060","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1007\/BF01970015","article-title":"Regional distribution of thiamin pyrophosphokinase in rat brain","volume":"41","author":"Matsuda","year":"1985","journal-title":"Experientia"},{"key":"10.1016\/j.ymgme.2014.09.010_bb0065","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.ymgme.2014.01.011","article-title":"The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource","volume":"111","author":"van Karnebeek","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2014.09.010_bb0070","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1535-7511.2005.00044.x","article-title":"Food for thought: the ketogenic diet and adverse effects in children","volume":"5","author":"Duchowny","year":"2005","journal-title":"Epilepsy Curr."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719214003059?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719214003059?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T09:13:02Z","timestamp":1589274782000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719214003059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S1096719214003059"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.09.010","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.09.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}