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We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith\u2013Lemli\u2013Opitz syndrome, X\u2010linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long\u2010term course of these metabolic disorders and for the recognition of such diseases in older patients.<\/jats:p>","DOI":"10.1111\/cge.12139","type":"journal-article","created":{"date-parts":[[2013,3,19]],"date-time":"2013-03-19T18:47:06Z","timestamp":1363718826000},"page":"184-188","source":"Crossref","is-referenced-by-count":4,"title":["Living with inborn errors of cholesterol biosynthesis: lessons from adult patients"],"prefix":"10.1111","volume":"85","author":[{"given":"M.L.","family":"Cardoso","sequence":"first","affiliation":[{"name":"Institute for Molecular and Cell Biology (IBMC) University of Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Gulbenkian Science Institute  Oeiras Portugal"},{"name":"Medical Genetics Centre Jacinto Magalh\u00e3es  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Serra","sequence":"additional","affiliation":[{"name":"Dermatology Department Coimbra University Hospitals  Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Martins","sequence":"additional","affiliation":[{"name":"Metabolic Unit Porto Hospital Centre (CHP)  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Fortuna","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre Jacinto Magalh\u00e3es  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Reis\u2010Lima","sequence":"additional","affiliation":[{"name":"Portugal Private Hospitals  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bandeira","sequence":"additional","affiliation":[{"name":"Metabolic Unit Porto Hospital Centre (CHP)  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Balreira","sequence":"additional","affiliation":[{"name":"Institute for Molecular and Cell Biology (IBMC) University of Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Marques","sequence":"additional","affiliation":[{"name":"Institute for Molecular and Cell Biology (IBMC) University of Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.R009548"},{"key":"e_1_2_5_3_1","first-page":"111","volume-title":"Prenatal diagnosis \u2013 morphology scan and invasive methods","author":"Cardoso ML","year":"2011"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000828)93:5<360::AID-AJMG4>3.0.CO;2-P"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M500096-JLR200"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.02.009"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e31819ea4eb"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.299"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1253\/jcj.63.53"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10756.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001002)94:4<300::AID-AJMG7>3.0.CO;2-3"},{"key":"e_1_2_5_12_1","first-page":"443","article-title":"Naevus \u00e9pidermique inflammatoire variable (N.E.V.I.L. atypique? 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