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Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320200308","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:57:10Z","timestamp":1118519830000},"page":"471-481","source":"Crossref","is-referenced-by-count":47,"title":["The clinical spectrum of \u03b1\u2010L\u2010iduronidase deficiency"],"prefix":"10.1002","volume":"20","author":[{"given":"M.","family":"Roubicek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Gehler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)91846-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1972.tb02557.x"},{"key":"e_1_2_1_4_1","first-page":"657","article-title":"Mukopolysaccharidose I bei einem Geschwisterpaar","volume":"75","author":"Breninek A","year":"1981","journal-title":"Z \u00c4rztl Fortbild (Jena)"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295816"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)93232-2"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.5.346"},{"key":"e_1_2_1_8_1","series-title":"BD:OAS","first-page":"453","volume-title":"Skeletal Dysplasias","author":"Elliott DE","year":"1974"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273487"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286515"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1938.tb02180.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(74)80356-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs0570265"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90121-9"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/269288a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000308739"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1097\/00003086-198305000-00039","article-title":"Hurler\u2010Scheie phenotype with parental consanguinity. 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