{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:49:00Z","timestamp":1791978540768,"version":"4.4.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T00:00:00Z","timestamp":1537315200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neurol Belg"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1007\/s13760-018-1024-7","type":"journal-article","created":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T00:59:49Z","timestamp":1537318789000},"page":"379-384","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14"],"prefix":"10.1007","volume":"119","author":[{"given":"Adel","family":"Zeglam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdusalam","family":"Abugrara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam","family":"Kabuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,9,19]]},"reference":[{"key":"1024_CR1","first-page":"265","volume":"5","author":"P Chen","year":"2014","unstructured":"Chen P, Parmalee N, Aschner M (2014) Genetic factors and manganese-induced neurotoxicity. Front Genet 5:265","journal-title":"Front Genet"},{"key":"1024_CR2","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1007\/s12011-012-9504-8","volume":"150","author":"D Santos","year":"2012","unstructured":"Santos D et al (2012) Manganese alters rat brain amino acids levels. Biol Trace Elem Res 150:337\u2013341","journal-title":"Biol Trace Elem Res"},{"key":"1024_CR3","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/j.pharmthera.2006.09.002","volume":"113","author":"M EriksonK","year":"2007","unstructured":"EriksonK M, Thompson K, Aschner J, Aschner M (2007) Manganese neurotoxicity: a focus on the neonate. Pharmacol Ther 113:369\u2013377","journal-title":"Pharmacol Ther"},{"key":"1024_CR4","unstructured":"Williams M, Todd GD, Roney N et al (2012) Toxicological profile for manganese. Atlanta (GA): agency for Toxic Substances and Disease Registry (US)"},{"key":"1024_CR5","volume-title":"Toxicological profile for manganese (update)","author":"Agency for Toxic Substances and Disease Registry","year":"2000","unstructured":"Agency for Toxic Substances and Disease Registry (2000) Toxicological profile for manganese (update). Agency for Toxic Substances and Disease Registry. A-3 to A-5, Atlanta"},{"key":"1024_CR6","first-page":"1","volume":"50","author":"S Fanh","year":"1988","unstructured":"Fanh S, Marsden CD, Caine DB (1988) Dystonia 2. Proceedings of the Second International Symposium on Torsion Dystonia. Harriman, New York (1986). Adv Neurol 50:1\u2013705","journal-title":"Adv Neurol"},{"key":"1024_CR7","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1093\/brain\/awl355","volume":"130","author":"G DeFazio","year":"2007","unstructured":"DeFazio G, Berardelli A, Hallett M (2007) Do primary adult-onset focal dystonias share etiological factors? Brain 130:1183\u20131193","journal-title":"Brain"},{"key":"1024_CR8","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1038\/nrn2337","volume":"9","author":"XO Breakefield","year":"2008","unstructured":"Breakefield XO, Blood AJ, Li Y et al (2008) The pathophysiological basis of dystonias. Nature Rev Neurosci 9:222\u2013234","journal-title":"Nature Rev Neurosci"},{"key":"1024_CR9","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/S1474-4422(06)70547-6","volume":"5","author":"HL Geyer","year":"2006","unstructured":"Geyer HL, Bressman SB (2006) The diagnosis of dystonia. Lancet Neurol 5:780\u2013790","journal-title":"Lancet Neurol"},{"key":"1024_CR10","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/j.febslet.2004.12.006","volume":"579","author":"KM Taylor","year":"2005","unstructured":"Taylor KM, Morgan HE, Johnson A, Nicholson RI (2005) Structure-function analysis of a novel member of the LIV-1 subfamily of zinc transporters, ZIP14. FEBS Lett 579:427\u2013432","journal-title":"FEBS Lett"},{"key":"1024_CR11","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1111\/j.1742-4658.2005.04580.x","volume":"272","author":"K Tominaga","year":"2005","unstructured":"Tominaga K et al (2005) SLC39A14, a LZT protein, is induced in adipogenesis and transports zinc. FEBS J 272:1590\u20131599","journal-title":"FEBS J"},{"key":"1024_CR12","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/j.neuro.2014.08.006","volume":"44C","author":"JA Roth","year":"2014","unstructured":"Roth JA (2014) Correlation between the biochemical pathways altered by mutated Parkinson-related genes and chronic exposure to manganese. Neurotoxicology 44C:314\u2013325","journal-title":"Neurotoxicology"},{"key":"1024_CR13","doi-asserted-by":"publisher","DOI":"10.1186\/s1300758-x","author":"L Marti-Sanchez","year":"2018","unstructured":"Marti-Sanchez L, Ortigoza-Escobar JD, Due\u00f1as P et al (2018) Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system. Orphanet J Rare Dis. \n                    https:\/\/doi.org\/10.1186\/s1300758-x\n                    \n                  \n                           (ISSN: 1750-1172)","journal-title":"Orphanet J Rare Dis"},{"key":"1024_CR14","doi-asserted-by":"publisher","DOI":"10.1038\/celldisc","author":"Y Xin","year":"2017","unstructured":"Xin Y, Gao H, Fudi W et al (2017) Manganese transporter Slc39a14 deficiency revealed its key role in maintaining manganese homeostasis in mice. Cell Disc. \n                    https:\/\/doi.org\/10.1038\/celldisc","journal-title":"Cell Disc"},{"key":"1024_CR15","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-60189-2_3","volume-title":"Neurotoxicity of metals. Advances in Neurobiology","author":"CE Zogzas","year":"2017","unstructured":"Zogzas CE, Mukhopadhyay S (2017) Inherited disorders of manganese metabolism. In: Aschner M, Costa L (eds) Neurotoxicity of metals. Advances in Neurobiology, vol\u00a018. Springer, Cham. \n                    https:\/\/doi.org\/10.1007\/978-3-319-60189-2_3"},{"key":"1024_CR16","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1039\/c2mt20177a","volume":"4","author":"DW Nebert","year":"2012","unstructured":"Nebert DW et al (2012) ZIP14 and ZIP8 zinc\/bicarbonate symporters in Xenopus oocytes: characterization of metal uptake and inhibition. Metallomics 4:1218\u20131225","journal-title":"Metallomics"},{"key":"1024_CR17","doi-asserted-by":"publisher","first-page":"32141","DOI":"10.1074\/jbc.M110.143248","volume":"285","author":"N Zhao","year":"2010","unstructured":"Zhao N, Gao J, Enns CA, Knutson M (2010) D. ZRT\/IRT\u2013like protein 14 (ZIP14) promotes the cellular assimilation of iron from transferrin. J Biol Chem 285:32141\u201332150","journal-title":"J Biol Chem"},{"issue":"3","key":"1024_CR18","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.tips.2016.11.008","volume":"38","author":"E Perland","year":"2017","unstructured":"Perland E, Fredriksson R (2017) Classification systems of secondary active transporters. Trends Pharmacol Sci 38(3):305\u2013315. \n                    https:\/\/doi.org\/10.1016\/j.tips.2016.11.008\n                    \n                  \n                           (ISSN 1873-3735. PMID 27939446)","journal-title":"Trends Pharmacol Sci"},{"key":"1024_CR19","doi-asserted-by":"publisher","first-page":"11601","DOI":"10.1038\/ncomms11601","volume":"7","author":"K Tuschl","year":"2016","unstructured":"Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Wilson SW (2016) Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood onset parkinsonism\u2013dystonia. Nat Commun 7:11601. \n                    https:\/\/doi.org\/10.1038\/ncomms11601","journal-title":"Nat Commun"},{"key":"1024_CR20","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3012","author":"M Juneja","year":"2018","unstructured":"Juneja M, Shamim U, Joshi A et al (2018) A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia. Gene Med. \n                    https:\/\/doi.org\/10.1002\/jgm.3012","journal-title":"Gene Med"},{"issue":"2","key":"1024_CR21","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.ymgme.2018.04.002","volume":"124","author":"LH Rodan","year":"2018","unstructured":"Rodan LH, Hauptman M, D\u2019Gama AM, Qualls AE, Cao S, Tuschl K, Agrawal PB, Al-Jasmi F (2018) Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies. Mol Genet Metabol. 124(2):161\u2013167. \n                    https:\/\/doi.org\/10.1016\/j.ymgme","journal-title":"Mol Genet Metabol"},{"key":"1024_CR22","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1055\/s-2005-865714","volume":"36","author":"FA Baumeister","year":"2005","unstructured":"Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T (2005) The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden\u2013Spatz syndrome. Neuropediatrics 36:221\u2013222","journal-title":"Neuropediatrics"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-018-1024-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13760-018-1024-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-018-1024-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T17:09:29Z","timestamp":1571850569000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13760-018-1024-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,19]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["1024"],"URL":"https:\/\/doi.org\/10.1007\/s13760-018-1024-7","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"value":"0300-9009","type":"print"},{"value":"2240-2993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,19]]},"assertion":[{"value":"15 February 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"We have no conflicts of interest to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed were in accordance with the ethical standards of the hospital.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standards"}},{"value":"Informed consent was obtained from all individual participants included in this case report.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}