{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T20:27:37Z","timestamp":1791404857767,"version":"4.3.3"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.14310\/horm.2002.1733","type":"journal-article","created":{"date-parts":[[2017,7,24]],"date-time":"2017-07-24T14:48:54Z","timestamp":1500907734000},"page":"194-199","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene"],"prefix":"10.1007","volume":"16","author":[{"given":"Teresa","family":"Rego","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen Gomez","family":"Lado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma Cabanas","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Sousa","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Barros","family":"Angueira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Castro-Feij\u00f3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas Barreiro","family":"Conde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Castro-Gago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,7,30]]},"reference":[{"key":"16020194_CR1","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1089\/105072503770867174","volume":"13","author":"J Bernal","year":"2003","unstructured":"Bernal J, Guada\u00f1o-Ferraz A, Morte B, 2003 Perspectives in the study of thyroid hormone action on brain development and function. Thyroid 13: 1005\u20131012.","journal-title":"Thyroid"},{"key":"16020194_CR2","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1210\/en.2008-1518","volume":"150","author":"H Heuer","year":"2009","unstructured":"Heuer H, Visser T, 2009 Mini review: Patophysiological importance of thyroid hormone transporters. Endocrinology 150: 1078\u20131083.","journal-title":"Endocrinology"},{"key":"16020194_CR3","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1210\/edrv.22.4.0435","volume":"22","author":"G Hennemann","year":"2001","unstructured":"Hennemann G, Docter R, Friesema E, Jong M, Krenning E, Visser T, 2001 Plasma membrane transport of thyroid hormones and its role in the thyroid hormone metabolism and bioavailability. Endocr Rev 22: 451\u2013476.","journal-title":"Endocr Rev"},{"key":"16020194_CR4","doi-asserted-by":"publisher","first-page":"40128","DOI":"10.1074\/jbc.M300909200","volume":"278","author":"E Friesema","year":"2003","unstructured":"Friesema E, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ, 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 278: 40128\u201340135.","journal-title":"J Biol Chem"},{"key":"16020194_CR5","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1042\/bj3290321","volume":"329","author":"NT Price","year":"1998","unstructured":"Price NT, Jackson VN, Halestrap AP, 1998 Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past. Biochem J 329: 321\u2013328.","journal-title":"Biochem J"},{"key":"16020194_CR6","doi-asserted-by":"publisher","first-page":"1701","DOI":"10.1210\/en.2004-1179","volume":"146","author":"H Heuer","year":"2005","unstructured":"Heuer H, Maier MK, Iden S, et al, 2005 The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. Endocrinology 146: 1701\u20131706.","journal-title":"Endocrinology"},{"key":"16020194_CR7","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1093\/hmg\/3.7.1133","volume":"3","author":"RG Lafreniere","year":"1994","unstructured":"Lafreniere RG, Carrel L, Willard HF, 1994 A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Hum Mol Genet 3: 1133\u20131139.","journal-title":"Hum Mol Genet"},{"key":"16020194_CR8","first-page":"325","volume":"48","author":"W Allan","year":"1944","unstructured":"Allan W, Herndon CN, Dudley FC, 1944 Some examples of the inheritance of mental deficiency: apparently sex-linked iodicy and microcephaly. Am J Ment Defic 48: 325\u2013334.","journal-title":"Am J Ment Defic"},{"key":"16020194_CR9","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1086\/380999","volume":"74","author":"AM Dumitrescu","year":"2004","unstructured":"Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S, 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74: 168\u2013175.","journal-title":"Am J Hum Genet"},{"key":"16020194_CR10","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1016\/S0140-6736(04)17226-7","volume":"364","author":"EC Friesema","year":"2004","unstructured":"Friesema EC, Grueters A, Biebermann H, et al, 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364: 1435\u20131437.","journal-title":"Lancet"},{"key":"16020194_CR11","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1086\/431313","volume":"77","author":"CE Schwartz","year":"2005","unstructured":"Schwartz CE, May MM, Carpenter NJ, et al, 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum 77: 41\u201353.","journal-title":"Am J Hum"},{"key":"16020194_CR12","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1590\/S0004-27302011000100008","volume":"55","author":"HC Filho","year":"2011","unstructured":"Filho HC, Marui S, Manna TD, et al, 2011 Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. Arq Bras Endocrinol Metabol 55: 60\u201366.","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"16020194_CR13","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1007\/s00415-005-0713-3","volume":"252","author":"K Brockmann","year":"2005","unstructured":"Brockmann K, 2005 X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol 252: 663\u2013666.","journal-title":"J Neurol"},{"key":"16020194_CR14","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1177\/08830738050200101601","volume":"20","author":"KR Holden","year":"2005","unstructured":"Holden KR, Zu\u00f1iga OF, May MM, et al, 2005 X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol 20: 852\u2013857.","journal-title":"J Child Neurol"},{"key":"16020194_CR15","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1111\/j.1469-8749.2008.03125.x","volume":"51","author":"O Fuchs","year":"2009","unstructured":"Fuchs O, Schmidt H, 2009 Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol 51: 240\u2013244.","journal-title":"Dev Med Child Neurol"},{"key":"16020194_CR16","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1016\/j.ejmg.2010.08.001","volume":"53","author":"L Boccone","year":"2010","unstructured":"Boccone L, Mariotti S, Dessi V, Pruna D, Meloni A, Loudianos G, 2010 Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH stimulated serum TSH. Eur J Med Genet 53: 392\u2013395.","journal-title":"Eur J Med Genet"},{"key":"16020194_CR17","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1159\/000365191","volume":"82","author":"A An\u0131k","year":"2014","unstructured":"An\u0131k A, Kersseboom S, Demir K, 2014 Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations. Horm Res Paediatr 82: 261\u2013271.","journal-title":"Horm Res Paediatr"},{"key":"16020194_CR18","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1159\/000371466","volume":"83","author":"JH Kim","year":"2015","unstructured":"Kim JH, Kim YM, Yum MS, et al, 2015 Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations. Horm Res Paediatr 83: 288\u2013292.","journal-title":"Horm Res Paediatr"},{"key":"16020194_CR19","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1177\/0883073812450944","volume":"28","author":"D Tonduti","year":"2013","unstructured":"Tonduti D, Vanderver A, Berardinelli A, 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol 28: 795\u2013800.","journal-title":"J Child Neurol"},{"key":"16020194_CR20","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/ana.21751","volume":"68","author":"MS van der Knaap","year":"2010","unstructured":"van der Knaap MS, Wolf NI, 2010 Hypomyelination versus delayed myelination. Ann Neurol 68: 115.","journal-title":"Ann Neurol"},{"key":"16020194_CR21","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","volume":"72","author":"R Schiffmann","year":"2009","unstructured":"Schiffmann R, van der Knaap MS, 2009 Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72: 750\u2013759.","journal-title":"Neurology"},{"key":"16020194_CR22","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1016\/j.braindev.2013.10.009","volume":"36","author":"S Azzolini","year":"2014","unstructured":"Azzolini S, Nosadini M, Balzarin M, et al, 2014 Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature. Brain Dev 36: 716\u2013720.","journal-title":"Brain Dev"},{"key":"16020194_CR23","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/j.jpeds.2005.05.012","volume":"147","author":"H Kakinuma","year":"2005","unstructured":"Kakinuma H, Itoh M, Takahashi H, 2005 A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. J Pediatr 147: 552\u2013554.","journal-title":"J Pediatr"},{"key":"16020194_CR24","first-page":"1","volume":"67","author":"V Herzovich","year":"2007","unstructured":"Herzovich V, Vaiani E, Marino R, et al, 2007 Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 67: 1\u20136.","journal-title":"Horm Res"},{"key":"16020194_CR25","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.mce.2010.01.016","volume":"322","author":"EC Friesema","year":"2010","unstructured":"Friesema EC, 2010 Genetics and phenomics of thyroid hormone transport by MCT8. Mol Cell Endocrinol 322: 107\u2013113.","journal-title":"Mol Cell Endocrinol"},{"key":"16020194_CR26","doi-asserted-by":"crossref","first-page":"615","DOI":"10.33588\/rn.5612.2012617","volume":"56","author":"L L\u00f3pez-Mar\u00edn","year":"2013","unstructured":"L\u00f3pez-Mar\u00edn L, Mart\u00edn-Belinch\u00f3n M, Guti\u00e9rrez-Solana LG, Morte-Molina B, Duat-Rodr\u00edguez A, Bernai J, 2013 MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature. Rev Neurol 56: 615\u2013622.","journal-title":"Rev Neurol"},{"key":"16020194_CR27","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1042\/BST0330228","volume":"33","author":"EC Friesema","year":"2005","unstructured":"Friesema EC, Jansen J, Visser TJ, 2005 Thyroid hormone transporters. Biochem Soc Trans 33: 228\u2013232.","journal-title":"Biochem Soc Trans"},{"key":"16020194_CR28","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1002\/ajmg.a.36970","volume":"167A","author":"KG Langley","year":"2015","unstructured":"Langley KG, Trau S, Bean LJ, Narravula A, Schrier Vergano SA, 2015 A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. Am J Med Genet A 167A: 1117\u20131120.","journal-title":"Am J Med Genet A"},{"key":"16020194_CR29","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1177\/0009922815584219","volume":"55","author":"JK Bedoyan","year":"2016","unstructured":"Bedoyan JK, Tim-Aroon T, Deeb KK, Ganganna ST, Bass NE, 2016 The value of comprehensive thyroid function testing and family history for early diagnosis of MCT8 deficiency. Clin Pediatr 55: 286\u2013289.","journal-title":"Clin Pediatr"}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.14310\/horm.2002.1733.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.14310\/horm.2002.1733\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.14310\/horm.2002.1733.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,9]],"date-time":"2025-02-09T15:40:23Z","timestamp":1739115623000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.14310\/horm.2002.1733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["16020194"],"URL":"https:\/\/doi.org\/10.14310\/horm.2002.1733","relation":{},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"value":"1109-3099","type":"print"},{"value":"2520-8721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4]]},"assertion":[{"value":"6 March 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}