{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T05:12:17Z","timestamp":1789881137333,"version":"4.0.1"},"reference-count":53,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T00:00:00Z","timestamp":1120176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2940,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2005,7]]},"DOI":"10.1086\/431216","type":"journal-article","created":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T13:58:14Z","timestamp":1118066294000},"page":"16-26","source":"Crossref","is-referenced-by-count":188,"title":["Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3"],"prefix":"10.1016","volume":"77","author":[{"given":"Wen-Qi","family":"Zeng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiman","family":"Al-Yamani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James S.","family":"Acierno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Slaugenhaupt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy","family":"Gillis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcy E.","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar T.","family":"Ozand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/431216_bib11","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/0925-4439(95)00082-8","article-title":"Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients","volume":"1272","author":"Aoki","year":"1995","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/431216_bib12","doi-asserted-by":"crossref","first-page":"G37","DOI":"10.1152\/ajpgi.00547.2001","article-title":"Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis","volume":"283","author":"Balamurugan","year":"2002","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"10.1086\/431216_bib13","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1007\/BF03402026","article-title":"Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family","volume":"8","author":"Baron","year":"2002","journal-title":"Mol Med"},{"key":"10.1086\/431216_bib14","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1212\/01.WNL.0000101680.49036.69","article-title":"Infantile bilateral striatal necrosis maps to chromosome 19q","volume":"62","author":"Basel-Vanagaite","year":"2004","journal-title":"Neurology"},{"key":"10.1086\/431216_bib15","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/0006-8993(81)90171-2","article-title":"Reduction in basal ganglia and substantia nigra substance P levels in Huntington\u2019s disease","volume":"209","author":"Buck","year":"1981","journal-title":"Brain Res"},{"key":"10.1086\/431216_bib16","series-title":"The vitamins: rundamental aspects in nutrition and health","first-page":"329","article-title":"Biotin","author":"Combs","year":"1992"},{"key":"10.1086\/431216_bib17","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/431216_bib18","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":"10.1086\/431216_bib19","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1093\/hmg\/5.7.1011","article-title":"Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency","volume":"5","author":"Dupuis","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/431216_bib20","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1006\/mgme.2000.3112","article-title":"Identification and characterization of the human and mouse SLC19A3 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":"10.1086\/431216_bib21","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/ana.410070503","article-title":"The relationships of aging changes in the basal ganglia to manifestations of Huntington\u2019s chorea","volume":"7","author":"Finch","year":"1980","journal-title":"Ann Neurol"},{"key":"10.1086\/431216_bib22","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/10379","article-title":"The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter","volume":"22","author":"Fleming","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/431216_bib23","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/BF01799663","article-title":"Biotinidase deficiency: metabolites in CSF","volume":"9","author":"Fois","year":"1986","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/431216_bib24","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/0887-8994(94)90050-7","article-title":"Serial MRI in infantile bilateral striatal necrosis","volume":"10","author":"Fujita","year":"1994","journal-title":"Pediatr Neurol"},{"key":"10.1086\/431216_bib25","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/0387-7604(94)90102-3","article-title":"Movement disorders in childhood organic acidurias: clinical, neuroimaging, and biochemical correlations","volume":"16","author":"Gascon","year":"1994","journal-title":"Brain Dev Suppl"},{"key":"10.1086\/431216_bib26","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1046\/j.1365-2141.2001.02774.x","article-title":"A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome","volume":"113","author":"Gritli","year":"2001","journal-title":"Br J Haematol"},{"key":"10.1086\/431216_bib27","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":"10.1086\/431216_bib28","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ajmg.a.20506","article-title":"Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome","volume":"125","author":"Lagarde","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1086\/431216_bib29","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1097\/00006454-199612000-00015","article-title":"Acute bilateral striatal necrosis associated with Mycoplasma pneumoniae infection","volume":"15","author":"Larsen","year":"1996","journal-title":"Pediatr Infect Dis J"},{"key":"10.1086\/431216_bib30","first-page":"460","article-title":"Easy calculations of LOD scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"10.1086\/431216_bib31","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","article-title":"Strategies for multilocus linkage analysis in humans","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/431216_bib32","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/gepi.1370030105","article-title":"Construction of human linkage maps: likelihood calculations for multilocus linkage analysis","volume":"3","author":"Lathrop","year":"1986","journal-title":"Genet Epidemiol"},{"key":"10.1086\/431216_bib33","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1136\/jnnp.55.1.16","article-title":"Bilateral striatal necrosis, dystonia and optic atrophy in two siblings","volume":"55","author":"Leuzzi","year":"1992","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/431216_bib34","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-510X(88)90124-4","article-title":"Defect in succinate oxidation by isolated muscle mitochondria in a patient with symmetrical lesions in the basal ganglia","volume":"84","author":"Martin","year":"1988","journal-title":"J Neurol Sci"},{"key":"10.1086\/431216_bib35","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1146\/annurev.nutr.22.121101.112819","article-title":"Biotin in metabolism and molecular biology","volume":"22","author":"McMahon","year":"2002","journal-title":"Annu Rev Nutr"},{"key":"10.1086\/431216_bib36","first-page":"379","article-title":"MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect","volume":"11","author":"Medina","year":"1990","journal-title":"Am J Neuroradiol"},{"key":"10.1086\/431216_bib37","first-page":"321","article-title":"The biotin-dependent enzymes","volume":"35","author":"Moss","year":"1971","journal-title":"Adv Enzymol Relat Areas Mol Biol"},{"key":"10.1086\/431216_bib38","first-page":"259","article-title":"[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients.]","volume":"54","author":"Narisawa","year":"1996","journal-title":"Nippon Rinsho"},{"key":"10.1086\/431216_bib39","first-page":"579","article-title":"[Acute encephalopathy with symmetrical lesions of the thalamus, the putamen and the cerebellum on magnetic resonance imaging.]","volume":"46","author":"Okiyama","year":"1994","journal-title":"No To Shinkei"},{"key":"10.1086\/431216_bib40","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/brain\/121.7.1267","article-title":"Biotin-responsive basal ganglia disease: a novel entity","volume":"121","author":"Ozand","year":"1998","journal-title":"Brain"},{"key":"10.1086\/431216_bib41","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/ng0995-96","article-title":"Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency","volume":"11","author":"Pomponio","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/431216_bib42","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1006\/abbi.1999.1213","article-title":"Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter","volume":"366","author":"Prasad","year":"1999","journal-title":"Arch Biochem Biophys"},{"key":"10.1086\/431216_bib43","doi-asserted-by":"crossref","first-page":"7501","DOI":"10.1074\/jbc.273.13.7501","article-title":"Cloning and functional expression of a cDNA encoding a mammalian sodium-dependent vitamin transporter mediating the uptake of pantothenate, biotin, and lipoate","volume":"273","author":"Prasad","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/431216_bib44","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0925-4439(01)00073-4","article-title":"SLC19A3 encodes a second thiamine transporter ThTr2","volume":"1537","author":"Rajgopal","year":"2001","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/431216_bib45","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9","article-title":"The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families","volume":"16","author":"Raz","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1086\/431216_bib46","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/j.jnutbio.2003.07.001","article-title":"Regulation of gene expression by biotin (review)","volume":"14","author":"Rodriguez-Melendez","year":"2003","journal-title":"J Nutr Biochem"},{"key":"10.1086\/431216_bib47","doi-asserted-by":"crossref","first-page":"G491","DOI":"10.1152\/ajpgi.00361.2003","article-title":"Expression and functional contribution of hTHTR-2 in thiamin absorption in human intestine","volume":"286","author":"Said","year":"2004","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"10.1086\/431216_bib48","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1159\/000154358","article-title":"Faster linkage analysis computations for pedigrees with loops or unused alleles","volume":"46","author":"Schaffer","year":"1996","journal-title":"Hum Hered"},{"key":"10.1086\/431216_bib49","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000154222","article-title":"Avoiding recomputation in linkage analysis","volume":"44","author":"Schaffer","year":"1994","journal-title":"Hum Hered"},{"key":"10.1086\/431216_bib50","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 SLC19A2 in a patient with deficiency of respiratory chain complex I","volume":"37","author":"Scharfe","year":"2000","journal-title":"J Med Genet"},{"key":"10.1086\/431216_bib51","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF02012417","article-title":"Wilson\u2019s disease: MRI demonstration of cavitations in basal ganglia and thalami","volume":"23","author":"Sener","year":"1993","journal-title":"Pediatr Radiol"},{"key":"10.1086\/431216_bib52","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/BF00588144","article-title":"Acute bilateral striatal necrosis in an infant: CT and MRI","volume":"36","author":"Sola Martinez","year":"1994","journal-title":"Neuroradiology"},{"key":"10.1086\/431216_bib53","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1111\/j.1471-4159.1987.tb04107.x","article-title":"Biotin transport through the blood-brain barrier","volume":"48","author":"Spector","year":"1987","journal-title":"J Neurochem"},{"key":"10.1086\/431216_bib54","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1212\/WNL.59.7.983","article-title":"Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment","volume":"59","author":"Straussberg","year":"2002","journal-title":"Neurology"},{"key":"10.1086\/431216_bib55","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1212\/WNL.35.10.1510","article-title":"Neurologic symptoms of biotinidase deficiency: possible explanation","volume":"35","author":"Suchy","year":"1985","journal-title":"Neurology"},{"key":"10.1086\/431216_bib56","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ng1094-122","article-title":"Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA","volume":"8","author":"Suzuki","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/431216_bib57","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1002\/ana.410380321","article-title":"A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis","volume":"38","author":"Thyagarajan","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1086\/431216_bib58","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1006\/jmbi.1998.2107","article-title":"Principles governing amino acid composition of integral membrane proteins: application to topology prediction","volume":"283","author":"Tusnady","year":"1998","journal-title":"J Mol Biol"},{"key":"10.1086\/431216_bib59","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/bioinformatics\/17.9.849","article-title":"The HMMTOP transmembrane topology prediction server","volume":"17","author":"Tusnady","year":"2001","journal-title":"Bioinformatics"},{"key":"10.1086\/431216_bib60","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1093\/jn\/135.1.42","article-title":"Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood","volume":"135","author":"Vlasova","year":"2005","journal-title":"J Nutr"},{"key":"10.1086\/431216_bib61","doi-asserted-by":"crossref","first-page":"14875","DOI":"10.1074\/jbc.274.21.14875","article-title":"Human placental Na+-dependent multivitamin transporter: cloning, functional expression, gene structure, and chromosomal localization","volume":"274","author":"Wang","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/431216_bib62","first-page":"699","article-title":"The biotin-dependent carboxylase deficiencies","volume":"34","author":"Wolf","year":"1982","journal-title":"Am J Hum Genet"},{"key":"10.1086\/431216_bib63","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1002\/1531-8257(200009)15:5<1023::AID-MDS1045>3.0.CO;2-A","article-title":"Bilateral striatal necrosis associated with Mycoplasma pneumoniae infection in an adolescent: clinical and neuroradiologic follow up","volume":"15","author":"Zambrino","year":"2000","journal-title":"Mov Disord"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707608982?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707608982?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,23]],"date-time":"2019-02-23T04:05:18Z","timestamp":1550894718000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707608982"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,7]]}},"alternative-id":["S0002929707608982"],"URL":"https:\/\/doi.org\/10.1086\/431216","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2005,7]]}}}