{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T15:32:32Z","timestamp":1780587152516,"version":"3.54.1"},"reference-count":31,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrition"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1016\/j.nut.2013.10.008","type":"journal-article","created":{"date-parts":[[2013,10,19]],"date-time":"2013-10-19T15:15:32Z","timestamp":1382195732000},"page":"485-488","source":"Crossref","is-referenced-by-count":6,"title":["Analysis of thiamine transporter genes in sporadic beriberi"],"prefix":"10.1016","volume":"30","author":[{"given":"Valentina","family":"Bravat\u00e0","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Minafra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Callari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Gelfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi Maria Edoardo","family":"Grimaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nut.2013.10.008_bib1","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1212\/WNL.0b013e3181b72652","article-title":"From stargazing chicks to seizing infants: Thiamine deficiency redux","volume":"73","author":"Patterson","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nut.2013.10.008_bib2","doi-asserted-by":"crossref","first-page":"197","DOI":"10.2174\/1566524013363870","article-title":"Molecular mechanisms of thiamine utilization","volume":"1","author":"Singleton","year":"2001","journal-title":"Curr Mol Med"},{"key":"10.1016\/j.nut.2013.10.008_bib3","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1023\/A:1020657129593","article-title":"Mechanisms of neuronal cell death in Wernicke's encephalopathy","volume":"13","author":"Hazell","year":"1998","journal-title":"Metab Brain Dis"},{"key":"10.1016\/j.nut.2013.10.008_bib4","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S0197-0186(01)00120-6","article-title":"Interactions of oxidative stress with thiamine homeostasis promote neurodegeneration","volume":"40","author":"Gibson","year":"2002","journal-title":"Neurochem"},{"key":"10.1016\/j.nut.2013.10.008_bib5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/jnen\/62.2.195","article-title":"Reversal of thiamine deficiency-induced neurodegeneration","volume":"62","author":"Ke","year":"2003","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nut.2013.10.008_bib6","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/alcalc\/agn101","article-title":"Molecular genetics of alcohol-related brain damage","volume":"44","author":"Guerrini","year":"2009","journal-title":"Alcohol Alcohol"},{"key":"10.1016\/j.nut.2013.10.008_bib7","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1097\/00043426-200312000-00002","article-title":"\"Beriberi\" interesting!","volume":"25","author":"Cole","year":"2003","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.nut.2013.10.008_bib8","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmg.37.9.669","article-title":"A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19 A2 in a patient with deficiency of respiratory chain complex I","volume":"37","author":"Scharfe","year":"2000","journal-title":"J Med Genet"},{"key":"10.1016\/j.nut.2013.10.008_bib9","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s00424-003-1068-1","article-title":"SLC19: The folate\/thiamine transporter family","volume":"447","author":"Ganapathy","year":"2004","journal-title":"Pflugers Arch-Eur J Physiol"},{"key":"10.1016\/j.nut.2013.10.008_bib10","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/10385","article-title":"Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome","volume":"22","author":"Diaz","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.nut.2013.10.008_bib11","doi-asserted-by":"crossref","first-page":"31925","DOI":"10.1074\/jbc.274.45.31925","article-title":"Cloning of the human thiamine transporter, a member of the folate transporter family","volume":"274","author":"Dutta","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nut.2013.10.008_bib12","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/10379","article-title":"The gene mutated in thiamineresponsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter","volume":"22","author":"Fleming","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.nut.2013.10.008_bib13","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/10372","article-title":"Mutations in SLC19 A2 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.nut.2013.10.008_bib14","doi-asserted-by":"crossref","first-page":"2951","DOI":"10.1093\/hmg\/11.23.2951","article-title":"Targeted disruption of SLC19 a2, the gene encoding the high affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice","volume":"11","author":"Oishi","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nut.2013.10.008_bib15","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1006\/bcmd.2000.0356","article-title":"Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport","volume":"27","author":"Neufeld","year":"2001","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.nut.2013.10.008_bib16","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.jpeds.2009.06.017","article-title":"Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update","volume":"155","author":"Bergmann","year":"2009","journal-title":"Pediatr"},{"key":"10.1016\/j.nut.2013.10.008_bib17","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1006\/mgme.2000.3112","article-title":"Identification and characterization of the human and mouse SLC19 A3 gene: A novel member of the reduced folate family of micronutrient transporter genes","volume":"71","author":"Eudy","year":"2000","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nut.2013.10.008_bib18","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1086\/431216","article-title":"Biotin-responsive basal ganglia disease maps to 2 q36.3 and is due to mutations in SLC19 A3","volume":"77","author":"Zeng","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nut.2013.10.008_bib19","doi-asserted-by":"crossref","first-page":"15927","DOI":"10.1073\/pnas.0607661103","article-title":"Knockout of Slc25 a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia","volume":"103","author":"Lindhurst","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.nut.2013.10.008_bib20","first-page":"564","article-title":"Diseases caused by defects of mitochondrial carriers: A review","volume":"1777","author":"Palmieri","year":"2008","journal-title":"Biochem Biophys Acta"},{"key":"10.1016\/j.nut.2013.10.008_bib21","first-page":"677","article-title":"Thiamin","volume":"1","author":"Rindi","year":"2005","journal-title":"Encylcopedia of dietary supplements"},{"key":"10.1016\/j.nut.2013.10.008_bib22","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-ketoglutaric aciduria","volume":"112","author":"Kelley","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nut.2013.10.008_bib23","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1002\/ajmg.a.33373","article-title":"Amish microcephaly: Long-term survival and biochemical characterization","volume":"152","author":"Siu","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.nut.2013.10.008_bib24","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/ana.21752","article-title":"SLC25 A19 Mutation as a cause of neuropathy and bilateral striatal necrosis","volume":"66","author":"Spiegel","year":"2009","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.nut.2013.10.008_bib25","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/alcalc\/agn102","article-title":"The neuropathology of alcohol-related brain damage","volume":"44","author":"Harper","year":"2009","journal-title":"Alcohol Alcohol"},{"key":"10.1016\/j.nut.2013.10.008_bib26","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1111\/j.1468-1331.2011.03602.x","article-title":"Dry beriberi mimicking Guillain-Barr\u00e9 syndrome as the first presenting sign of thiamine deficiency","volume":"19","author":"Faigle","year":"2012","journal-title":"Eur J Neurol"},{"issue":"4","key":"10.1016\/j.nut.2013.10.008_bib27","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1186\/1752-1947-4-409","article-title":"Rapidly progressive polyneuropathy due to dry beriberi in a man: A case report","volume":"21","author":"Howard","year":"2010","journal-title":"J Med Case Rep"},{"key":"10.1016\/j.nut.2013.10.008_bib28","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.nut.2008.02.022","article-title":"Rapidly developing weakness mimicking Guillain-Barr\u00e9 syndrome in beriberi neuropathy: Two case reports","volume":"24","author":"Koike","year":"2008","journal-title":"Nutrition"},{"key":"10.1016\/j.nut.2013.10.008_bib29","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.microc.2004.03.013","article-title":"Determination of thiamine in blood serum and urine by high-performance liquid chromatography with direct injection and post-column derivatization","volume":"78","author":"Bohrer","year":"2004","journal-title":"Microchem J"},{"key":"10.1016\/j.nut.2013.10.008_bib30","series-title":"Cecil medicine","article-title":"Nutrition and alcohol-related neurologic disorders","author":"Koppel","year":"2011"},{"key":"10.1016\/j.nut.2013.10.008_bib31","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10162-006-0035-x","article-title":"Deletion of SLC19 A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype","volume":"7","author":"Lieberman","year":"2006","journal-title":"J Assoc Res Otolaryngol"}],"container-title":["Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0899900713004565?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0899900713004565?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T00:54:32Z","timestamp":1539305672000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0899900713004565"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["S0899900713004565"],"URL":"https:\/\/doi.org\/10.1016\/j.nut.2013.10.008","relation":{},"ISSN":["0899-9007"],"issn-type":[{"value":"0899-9007","type":"print"}],"subject":[],"published":{"date-parts":[[2014,4]]}}}