{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T02:27:31Z","timestamp":1790389651005,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1750-1172-9-92","type":"journal-article","created":{"date-parts":[[2014,6,23]],"date-time":"2014-06-23T17:03:42Z","timestamp":1403543022000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["Thiamine transporter-2 deficiency: outcome and treatment monitoring"],"prefix":"10.1186","volume":"9","author":[{"given":"Juan Dar\u00edo","family":"Ortigoza-Escobar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Serrano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Molero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Oyarzabal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Rebollo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Muchart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Rodr\u00edguez-Pombo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez-Due\u00f1as","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,6,23]]},"reference":[{"key":"779_CR1","doi-asserted-by":"publisher","first-page":"e693","DOI":"10.1542\/peds.2009-1984","volume":"125","author":"E Marco","year":"2010","unstructured":"Marco E, Anderson J, Neilson D, Strober J: Acute necrotizing encephalopathy in 3 brothers. Pediatrics. 2010, 125: e693-e698.","journal-title":"Pediatrics"},{"key":"779_CR2","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/s10048-013-0355-z","volume":"14","author":"D Lal","year":"2013","unstructured":"Lal D, Becker K, Motameny S, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Ahting U, Rolinski B, Neubauer BA, Hahn A: Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013, 14: 85-87.","journal-title":"Neurogenetics"},{"key":"779_CR3","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1186\/1471-2377-13-55","volume":"13","author":"C Tzoulis","year":"2013","unstructured":"Tzoulis C, Vedeler C, Haugen M, Storstein A, Tran GT, Gjerde IO, Biermann M, Schwarzlm\u00fcller T, Bindoff LA: Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurol. 2013, 13: 55.","journal-title":"BMC Neurol"},{"key":"779_CR4","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1002\/ajmg.a.36360","volume":"164","author":"R La Piana","year":"2014","unstructured":"La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S: Bilateral striatal necrosis in two subjects with aicardi-gouti\u00e8res syndrome due to mutations in ADAR1 (AGS6). Am J Med Genet A. 2014, 164: 815-892.","journal-title":"Am J Med Genet A"},{"key":"779_CR5","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1016\/j.ejpn.2008.12.002","volume":"13","author":"B P\u00e9rez-Due\u00f1as","year":"2009","unstructured":"P\u00e9rez-Due\u00f1as B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, Garc\u00eda-Cazorla A, Serrano M, Pineda M, Campistol J: Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging. Eur J Paediatr Neurol. 2009, 13: 534-540.","journal-title":"Eur J Paediatr Neurol"},{"key":"779_CR6","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1093\/brain\/121.7.1267","volume":"121","author":"PT Ozand","year":"1998","unstructured":"Ozand PT, Gascon GG, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O: Biotin-responsive basal ganglia disease: a novel entity. Brain. 1998, 121: 1267-1279.","journal-title":"Brain"},{"key":"779_CR7","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1086\/431216","volume":"77","author":"WQ Zeng","year":"2005","unstructured":"Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005, 77: 16-26.","journal-title":"Am J Hum Genet"},{"key":"779_CR8","doi-asserted-by":"publisher","first-page":"1792","DOI":"10.1056\/NEJMc0809100","volume":"360","author":"S Kono","year":"2009","unstructured":"Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H: Mutations in a thiamine-transporter gene and Wernicke\u2019s-like encephalopathy. N Engl J Med. 2009, 360: 1792-1794.","journal-title":"N Engl J Med"},{"key":"779_CR9","first-page":"171","volume":"11","author":"K Yamada","year":"2010","unstructured":"Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N: A wide spectrum of clinical and brain MRI findings in SLC19A3 mutations. BMC MedGenet. 2010, 11: 171.","journal-title":"BMC MedGenet"},{"key":"779_CR10","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1001\/archneurol.2009.293","volume":"67","author":"R Debs","year":"2010","unstructured":"Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F: Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010, 67: 126-130.","journal-title":"Arch Neurol"},{"key":"779_CR11","first-page":"1295","volume":"27","author":"M Serrano","year":"2012","unstructured":"Serrano M, Rebollo M, Depienne C, Rastetter A, Fern\u00e1ndez-\u00c1lvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, P\u00e9rez-Due\u00f1as B: Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. MovDisord. 2012, 27: 1295-1298.","journal-title":"MovDisord"},{"key":"779_CR12","doi-asserted-by":"publisher","first-page":"1534","DOI":"10.1093\/brain\/awt054","volume":"136","author":"S Kevelam","year":"2013","unstructured":"Kevelam S, Bugiani M, Salomons G, Feigenbaum A, Blaser S, Prasad C, H\u00e4berle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS: Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013, 136: 1534-1543.","journal-title":"Brain"},{"key":"779_CR13","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1093\/brain\/awt013","volume":"136","author":"M Gerards","year":"2013","unstructured":"Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H: Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early childhood fatal Leigh syndrome. Brain. 2013, 136: 882-890.","journal-title":"Brain"},{"key":"779_CR14","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1212\/WNL.0b013e31827deb4c","volume":"80","author":"B Tabarki","year":"2013","unstructured":"Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G: Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology. 2013, 80: 261-267.","journal-title":"Neurology"},{"key":"779_CR15","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/1750-1172-8-83","volume":"8","author":"M Alfadhel","year":"2013","unstructured":"Alfadhel M, Almuntashri M, Jadah R, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W: Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. 2013, 8: 83.","journal-title":"Orphanet J Rare Dis"},{"key":"779_CR16","doi-asserted-by":"crossref","first-page":"200838","DOI":"10.1136\/bcr-2013-200838","volume":"2013","author":"E Fassone","year":"2013","unstructured":"Fassone E, Wedatilake Y, Devile CJ, Chong WK, Carr LJ, Rahman S: Treatable Leigh-like encephalopathy presenting in adolescence. BMJ Case Rep. 2013, 2013: 200838.","journal-title":"BMJ Case Rep"},{"key":"779_CR17","volume-title":"JIMD Rep","author":"F Distelmaier","year":"2013","unstructured":"Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, Mayatepek E, Kohlhase J, Karenfort M: Biotin-responsive basal ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep. Epub ahead of print; 2013."},{"key":"779_CR18","first-page":"1993","volume-title":"GeneReviews\u2122 [Internet]","author":"B Tabarki","year":"2013","unstructured":"Tabarki B, Al-Hashem A, Alfadhel M: Biotin-Thiamine-Responsive Basal Ganglia Disease. GeneReviews\u2122 [Internet]. Edited by: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K. Seattle (WA): University of Washington, Seattle; 2013: 1993-2013."},{"key":"779_CR19","doi-asserted-by":"publisher","first-page":"e1670","DOI":"10.1542\/peds.2012-2988","volume":"131","author":"B P\u00e9rez-Due\u00f1as","year":"2013","unstructured":"P\u00e9rez-Due\u00f1as B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R: Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013, 131: e1670-e1675.","journal-title":"Pediatrics"},{"key":"779_CR20","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1111\/bpa.12117","volume":"24","author":"A Sch\u00e4nzer","year":"2014","unstructured":"Sch\u00e4nzer A, D\u00f6ring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, Hahn A: Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. Brain Pathol. 2014, 24: 270-279.","journal-title":"Brain Pathol"},{"key":"779_CR21","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1038\/sj.ejcn.1600625","volume":"52","author":"D Moyano","year":"1998","unstructured":"Moyano D, Vilaseca MA, Artuch R, Lambruschini N: Plasma amino acids in anorexia nervosa. Eur J Clin Nutr. 1998, 52: 684-689.","journal-title":"Eur J Clin Nutr"},{"key":"779_CR22","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1007\/978-3-540-76698-8","volume-title":"Laboratory guide to the methods in biochemical genetics","author":"N Blau","year":"2008","unstructured":"Blau N, Duran M, Gibson K: Laboratory guide to the methods in biochemical genetics. Edited by: Blau N, Duran M, Gibson K. Berlin, Heidelberg, New York: Springer; 2008: 137-169."},{"key":"779_CR23","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.ajhg.2011.11.007","volume":"89","author":"JA Mayr","year":"2011","unstructured":"Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011, 89: 806-812.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"779_CR24","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1002\/humu.22513","volume":"35","author":"A Garc\u00eda-Cazorla","year":"2014","unstructured":"Garc\u00eda-Cazorla A, Oyarzabal A, Fort J, Robles C, Castej\u00f3n E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palac\u00edn M, Rodr\u00edguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitj\u00f3s M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agull\u00f3 SB: Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014, 35 (4): 470-477.","journal-title":"Hum Mutat"},{"key":"779_CR25","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1161\/CIRCRESAHA.111.258541","volume":"111","author":"SY Chan","year":"2012","unstructured":"Chan SY, Loscalzo J: The emerging paradigm of network medicine in the study of human disease. Circ Res. 2012, 111: 359-374.","journal-title":"Circ Res"},{"key":"779_CR26","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1242\/jeb.002311","volume":"210","author":"B Lehner","year":"2007","unstructured":"Lehner B: Modelling genotype-phenotype relationships and human disease with genetic interaction networks. J Exp Biol. 2007, 210: 1559-1566.","journal-title":"J Exp Biol"},{"key":"779_CR27","doi-asserted-by":"publisher","first-page":"1882","DOI":"10.1016\/j.jchromb.2009.05.013","volume":"877","author":"RW K\u00f6rner","year":"2009","unstructured":"K\u00f6rner RW, Vierzig A, Roth B, M\u00fcller C: Determination of thiamin diphosphate in whole blood samples by high-performance liquid chromatography\u2013a method suitable for pediatric diagnostics. J Chromatogr B Analyt Technol Biomed Life Sci. 2009, 877: 1882-1886.","journal-title":"J Chromatogr B Analyt Technol Biomed Life Sci"},{"key":"779_CR28","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1002\/ana.410380321","volume":"38","author":"D Thyagarajan","year":"1995","unstructured":"Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S: A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neuro. 1995, 38: 468-472.","journal-title":"Ann Neuro"},{"key":"779_CR29","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1111\/j.1469-8749.2011.04151.x","volume":"54","author":"G Giribaldi","year":"2012","unstructured":"Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C: Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. Dev Med Child Neurol. 2012, 54: 472-476.","journal-title":"Dev Med Child Neurol"},{"key":"779_CR30","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1136\/jmg.2010.079624","volume":"48","author":"AS Lebre","year":"2011","unstructured":"Lebre AS, Rio M, Faivre d\u2019Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Lafor\u00eat P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Gr\u00e9vent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, R\u00f6tig A, Munnich A, Boddaert N: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 2011, 48: 16-23.","journal-title":"J Med Genet"},{"key":"779_CR31","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1016\/j.mito.2013.09.003","volume":"13","author":"S1 Parikh","year":"2013","unstructured":"Parikh S1, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group: Practice patterns of mitochondrial disease physicians in North America: part 2: treatment, care and management. Mitochondrion. 2013, 13: 681-687.","journal-title":"Mitochondrion"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-9-92.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T09:09:22Z","timestamp":1630573762000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-9-92"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,23]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["779"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-9-92","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,23]]},"assertion":[{"value":"8 April 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 June 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"92"}}