{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:01:01Z","timestamp":1791824461851,"version":"4.3.4"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1093\/brain\/awt315","type":"journal-article","created":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T02:49:07Z","timestamp":1384915747000},"page":"44-56","source":"Crossref","is-referenced-by-count":165,"title":["Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2"],"prefix":"10.1093","volume":"137","author":[{"given":"A. Reghan","family":"Foley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj P.","family":"Menezes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie","family":"Pandraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Al-Odaib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander J.","family":"Abrams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumiko","family":"Sugano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Yonezawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan Y.","family":"Manzur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Burns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imelda","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Gary","family":"McCullagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming J.","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Megarbane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Andoni","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayaz H.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayne","family":"Antony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Broomfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann A.","family":"Mathew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"O\u2019Byrne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Forman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariacristina","family":"Scoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"O\u2019Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Olpin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Oppenheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain","family":"Hargreaves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Land","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min X.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Gold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael O.","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Brandner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuo","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"McGarvey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter S.","family":"Baxter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary D.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamima","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Ouvrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Z\u00fcchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,11,15]]},"reference":[{"key":"key\n\t\t\t\t20170425181603_awt315-B1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1753-4887.1984.tb02278.x","article-title":"Toxic effects of water-soluble vitamins","volume":"42","author":"Alhadeff","year":"1984","journal-title":"Nutr Rev"},{"key":"key\n\t\t\t\t20170425181603_awt315-B2","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1469-8749.2011.04142.x","article-title":"Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome","volume":"54","author":"Anand","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"key\n\t\t\t\t20170425181603_awt315-B3","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s10545-010-9242-z","article-title":"Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment","volume":"34","author":"Bosch","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20170425181603_awt315-B4","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/1750-1172-7-83","article-title":"The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives","volume":"7","author":"Bosch","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t20170425181603_awt315-B5","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1097\/00005053-189411000-00003","article-title":"Infantile amyotrophic lateral sclerosis of the family type","volume":"19","author":"Brown","year":"1894","journal-title":"J Nerv Ment Dis"},{"key":"key\n\t\t\t\t20170425181603_awt315-B6","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1001\/archneur.1981.00510030080012","article-title":"Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases","volume":"38","author":"Brucher","year":"1981","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20170425181603_awt315-B7","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1016\/j.nmd.2012.05.007","article-title":"Brown-Vialetto-Van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study","volume":"22","author":"Ciccolella","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20170425181603_awt315-B8","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.nmd.2005.05.003","article-title":"Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome","volume":"15","author":"De Grandis","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20170425181603_awt315-B9","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.braindev.2004.10.003","article-title":"Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease","volume":"27","author":"Dipti","year":"2005","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20170425181603_awt315-B10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1365-2990.1993.tb00409.x","article-title":"Brown-Vialetto-Van Laere syndrome","volume":"19","author":"Francis","year":"1993","journal-title":"Neuropathol Appl Neurobiol"},{"key":"key\n\t\t\t\t20170425181603_awt315-B11","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/0022-510X(81)90172-6","article-title":"Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome)","volume":"50","author":"Gallai","year":"1981","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20170425181603_awt315-B12","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.ajhg.2010.02.006","article-title":"Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20orf54","volume":"86","author":"Green","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425181603_awt315-B13","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s10545-008-0990-y","article-title":"Mitochondrial fatty acid oxidation defects\u2014remaining challenges","volume":"31","author":"Gregersen","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20170425181603_awt315-B14","volume-title":"Advanced nutrition and human metabolism","author":"Gropper","year":"2012","edition":"6th edn"},{"key":"key\n\t\t\t\t20170425181603_awt315-B15","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1007\/s10545-012-9513-y","article-title":"Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome","volume":"35","author":"Haack","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20170425181603_awt315-B16","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1136\/jmg.27.3.176","article-title":"Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance","volume":"27","author":"Hawkins","year":"1990","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20170425181603_awt315-B17","doi-asserted-by":"crossref","first-page":"E1976","DOI":"10.1002\/humu.21399","article-title":"Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B","volume":"32","author":"Ho","year":"2011","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425181603_awt315-B18","doi-asserted-by":"crossref","first-page":"2875","DOI":"10.1093\/brain\/aws161","article-title":"Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease","volume":"135","author":"Johnson","year":"2012","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425181603_awt315-B19","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1080\/14660820310006742","article-title":"Mental retardation associated with Brown-Vialetto-Van Laere syndrome","volume":"4","author":"Koc","year":"2003","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord"},{"key":"key\n\t\t\t\t20170425181603_awt315-B20","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1177\/08830738060210060501","article-title":"Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings","volume":"21","author":"Koul","year":"2006","journal-title":"J Child Neurol"},{"key":"key\n\t\t\t\t20170425181603_awt315-B21","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1085-9489.2005.10106.x","article-title":"Cryptogenic polyneuropathy: clinical and neurophysiological findings","volume":"10","author":"Lindh","year":"2005","journal-title":"J Peripher Nerv Syst"},{"key":"key\n\t\t\t\t20170425181603_awt315-B22","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1590\/S0004-282X2007000100008","article-title":"A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance","volume":"65","author":"Malheiros","year":"2007","journal-title":"Arq Neuropsiquiatr"},{"key":"key\n\t\t\t\t20170425181603_awt315-B23","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/brain\/115.6.1889","article-title":"Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease","volume":"115","author":"McShane","year":"1992","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425181603_awt315-B24","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<117::AID-AJMG7>3.0.CO;2-C","article-title":"Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?","volume":"92","author":"Megarbane","year":"2000","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t20170425181603_awt315-B25","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/jb\/mvr095","article-title":"Riboflavin transporter is finally identified","volume":"150","author":"Moriyama","year":"2011","journal-title":"J Biochem"},{"key":"key\n\t\t\t\t20170425181603_awt315-B26","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1159\/000115459","article-title":"Progressive bulbar paralysis of childhood (Fazio-Londe disease) with deafness. Case report with clinicopathologic correlation","volume":"21","author":"Rosemberg","year":"1982","journal-title":"Eur Neurol"},{"key":"key\n\t\t\t\t20170425181603_awt315-B27","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jnnp-2011-300952","article-title":"The distal hereditary motor neuropathies","volume":"83","author":"Rossor","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20170425181603_awt315-B28","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-3-9","article-title":"Brown-Vialetto-Van Laere syndrome","volume":"3","author":"Sathasivam","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t20170425181603_awt315-B29","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","article-title":"CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice","volume":"22","author":"Thompson","year":"1994","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20170425181603_awt315-B30","first-page":"289","article-title":"Paralysie bulbo-pontine chronique progressive familiale avec surdit\u00e9. Un cas de syndrome de Klippel-Trenaunay dans la m\u00eame fratrie. Probl\u00e8mes diagnostiques et g\u00e9n\u00e9tiques","volume":"115","author":"Van Laere","year":"1966","journal-title":"Rev Neurol"},{"key":"key\n\t\t\t\t20170425181603_awt315-B31","first-page":"1","article-title":"Contributo alla forma ereditaria della paralisi bulbare progressive","volume":"40","author":"Vialetto","year":"1936","journal-title":"Riv Sper Freniat"},{"key":"key\n\t\t\t\t20170425181603_awt315-B32","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/S0387-7604(02)00085-2","article-title":"Infantile progressive bulbar palsy with deafness","volume":"24","author":"Voudris","year":"2002","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20170425181603_awt315-B33","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.3945\/jn.110.122911","article-title":"Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain","volume":"140","author":"Yao","year":"2010","journal-title":"J Nutr"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/137\/1\/44\/13796930\/awt315.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T21:47:09Z","timestamp":1503438429000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awt315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,15]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,11,15]]},"published-print":{"date-parts":[[2014,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awt315","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11,15]]}}}