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The different electron shells of an atom carry different energy levels, with those closest to the nucleus being lowest in energy. The number of electrons in the outermost shell determines the reactivity of such an atom. The electron shells are divided in sub-shells, and in particular the third shell has s, p and d sub-shells. Transition metals are strictly defined as elements whose atom has an incomplete d sub-shell. This incomplete d sub-shell makes them prone to chemical reactions, particularly redox reactions. Transition metals of biologic importance include copper, iron, manganese, cobalt and molybdenum. Zinc is not a transition metal, since it has a complete d sub-shell. Selenium, on the other hand, is strictly speaking a nonmetal, although given its chemical properties between those of metals and nonmetals, it is sometimes considered a metalloid. In this review, we summarize the current knowledge on the inborn errors of metal and metalloid metabolism.<\/jats:p>","DOI":"10.3233\/trd-170015","type":"journal-article","created":{"date-parts":[[2017,11,7]],"date-time":"2017-11-07T12:13:33Z","timestamp":1510056813000},"page":"101-139","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["Disorders of metal metabolism"],"prefix":"10.1177","volume":"2","author":[{"given":"Carlos R.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Children\u2019s National\r          Health System, Washington, DC, USA"},{"name":"Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC,\r            USA"},{"name":"Section on Human Biochemical Genetics, Medical Genetics\r          Branch, National Human Genome Research Institute, NIH,\r          Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics, Medical Genetics\r          Branch, National Human Genome Research Institute, NIH,\r          Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2017,11,6]]},"reference":[{"key":"ref001","volume-title":"Metabolic and Molecular Bases of Inherited Diseases","author":"Danks D.M.","year":"1995","edition":"7"},{"key":"ref002","unstructured":"CulottaV.C. and             GitlinJ.D.,             Disorders of Copper Transport. In: ValleDL, BeaudetAL, VogelsteinB, KinzlerKW, AntonarakisSE, BallabioA, et             al., editors. The Online Metabolic and MolecularBases of Inherited             Disease [Internet]. New York NY:             The McGraw-Hill Comanies, Inc. 2014 [cited 2015 Jul 27]. Available from: http:\/\/mhmedical.com\/content.aspx?aid=1102891541"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.15.8428"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/34.4.295"},{"key":"ref005","unstructured":"WeissK.H.,             Wilson Disease. In: PagonRA, AdamMP,             ArdingerHH, WallaceSE, AmemiyaA, BeanLJ,             et al., editors. GeneReviews(\n                      \u00ae\n                      )             [Internet]. Seattle (WA):             University of Washington, Seattle; 1993 [cited 2015 Aug 6]. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1512\/"},{"key":"ref006","unstructured":"ScheinbergI.H. and             SternliebI.,             Wilson\u2019s disease. Vol. 23.             WB Saunders Company;           1984."},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1985.65.2.238"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-327"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-338"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-317"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2004.07.017"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.521"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L"},{"issue":"6","key":"ref015","first-page":"43S","volume":"4","author":"Yoo H.-W.","year":"2002","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"6","key":"ref016","volume":"44","author":"Horslen S.","year":"2010","journal-title":"J Clin Gastroenterol [Internet]"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31191"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30345"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109727"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.05.004"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-541"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1007\/s100249900011"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(78)90238-X"},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(83)80181-4"},{"issue":"4","key":"ref025","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/brain\/104.4.735","volume":"104","author":"Williams F.J.","year":"1981","journal-title":"Brain J Neurol"},{"issue":"5","key":"ref026","first-page":"498","volume":"14","author":"Das M.","year":"2007","journal-title":"Eur J Neurol Off J Eur Fed Neurol Soc"},{"key":"ref027","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.5.866"},{"key":"ref028","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000134793.50831.C1"},{"key":"ref029","doi-asserted-by":"publisher","DOI":"10.1378\/chest.91.4.579"},{"issue":"8","key":"ref030","first-page":"498","volume":"53","author":"Hogland H.C.","year":"1978","journal-title":"Mayo Clin Proc"},{"key":"ref031","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(91)80023-3"},{"key":"ref032","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-199404000-00034"},{"key":"ref033","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-86-3-301"},{"issue":"7","key":"ref034","first-page":"409","volume":"52","author":"Wiebers D.O.","year":"1977","journal-title":"Mayo Clin Proc"},{"key":"ref035","doi-asserted-by":"publisher","DOI":"10.1002\/hep.22261"},{"key":"ref036","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2007.05.002"},{"key":"ref037","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)91974-2"},{"issue":"6","key":"ref038","first-page":"883","volume":"53","author":"Goldfischer S.","year":"1968","journal-title":"Am J Pathol"},{"issue":"6","key":"ref039","first-page":"298","volume":"101","author":"Irons R.D.","year":"1977","journal-title":"Arch Pathol Lab Med"},{"key":"ref040","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1989.tb01590.x"},{"key":"ref041","unstructured":"HubscherS.G.,             BurtA.D., PortmannB.C. and             FerrellL.D.,             MacSween\u2019s pathology of the liver.             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