{"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":1791755100706,"version":"4.3.4"},"reference-count":5,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"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","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Neurology and Neurosurgery"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.clineuro.2020.106258","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T12:30:50Z","timestamp":1601469050000},"page":"106258","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype"],"prefix":"10.1016","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0711-3932","authenticated-orcid":false,"given":"Lisa Wing Chi","family":"Au","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0162-5681","authenticated-orcid":false,"given":"Hencher Han Chih","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bun","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwok Yin","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric Kin Cheong","family":"Yau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe Miu","family":"Mak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert Yan Wo","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Yin Yan","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire Ka Yee","family":"Lau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent Chung Tong","family":"Mok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ching Wan","family":"Lam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.clineuro.2020.106258_bib0005","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."},{"issue":"December (4)","key":"10.1016\/j.clineuro.2020.106258_bib0010","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ymgme.2014.09.010","article-title":"Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations","volume":"113","author":"Banka","year":"2014","journal-title":"Mol. Genet. Metab."},{"issue":"August (8)","key":"10.1016\/j.clineuro.2020.106258_bib0015","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1212\/WNL.0000000000004270","article-title":"Thiamine-responsive disease due to mutation of tpk1: importance of avoiding misdiagnosis","volume":"89","author":"Invernizzi","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.clineuro.2020.106258_bib0020","doi-asserted-by":"crossref","first-page":"S105","DOI":"10.1016\/j.pathol.2016.12.303","article-title":"Ending a 40-year-diagnostic odyssey by clinical whole exome sequencing for a treatable neurological disease","volume":"49","author":"Lam","year":"2016","journal-title":"Pathology"},{"key":"10.1016\/j.clineuro.2020.106258_bib0025","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"}],"container-title":["Clinical Neurology and Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846720306016?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846720306016?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T14:32:43Z","timestamp":1759588363000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303846720306016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":5,"alternative-id":["S0303846720306016"],"URL":"https:\/\/doi.org\/10.1016\/j.clineuro.2020.106258","relation":{},"ISSN":["0303-8467"],"issn-type":[{"value":"0303-8467","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype","name":"articletitle","label":"Article Title"},{"value":"Clinical Neurology and Neurosurgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clineuro.2020.106258","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106258"}}