{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T21:20:43Z","timestamp":1786656043711,"version":"build-2736575974"},"reference-count":35,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis.<\/jats:p><jats:p>Gas chromatography\/mass spectrometry was used to obtain sterol profiles in plasma and erythrocyte membranes of suspected patients.<\/jats:p><jats:p>Plasma sterol reference values calculated in unaffected subjects (n=276) were in agreement with those previously reported. Among patients investigated from 2005 to 2010, we report 16 patients affected by Smith-Lemli-Opitz syndrome, three of whom represent new cases and 13 of whom were follow-up patients. In this period we also identified a new case of chondrodysplasia punctata 2 X-linked. The estimated incidence obtained for Smith-Lemli-Opitz syndrome was 1:93 suspected patients (1.08%). We also studied the effect of storage on the dehydrocholesterols\/cholesterol ratio in plasma and erythrocyte membranes of patients affected by Smith-Lemli-Opitz syndrome stored at \u201320\u00b0C for up to 22 and 20 months, respectively. A significant negative linear correlation between storage time and the dehydrocholesterols\/cholesterol ratio was identified in both plasma and erythrocyte membranes. The decrease in the dehydrocholesterols\/cholesterol ratio in erythrocyte membranes was at least two-fold higher than in plasma.<\/jats:p><jats:p>The results of this study may be helpful for diagnosis and interpretation of data in patients with findings suggestive of a cholesterol biosynthesis defect.<\/jats:p>","DOI":"10.1515\/cclm.2011.689","type":"journal-article","created":{"date-parts":[[2011,8,25]],"date-time":"2011-08-25T12:03:48Z","timestamp":1314273828000},"source":"Crossref","is-referenced-by-count":16,"title":["Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience"],"prefix":"10.1515","volume":"49","author":[{"given":"Gaetano","family":"Corso","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Gelzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalba","family":"Barone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Clericuzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierluigi","family":"Pianese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Nappi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Dello","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref91","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0022-3476(95)70261-X","article-title":"Correlation of severity and outcome with plasma sterol concentrations in variants of the Smith - Lemli - Opitz syndrome","volume":"127","author":"Tint","year":"1995","journal-title":"J Pediatr"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N","article-title":"Clinical and biochemical spectrum of patients with RSH \/ Smith - Lemli - Opitz syndrome and abnormal cholesterol metabolism","volume":"68","author":"Cunniff","year":"1997","journal-title":"Am J Med Genet"},{"key":"ref11","first-page":"341","article-title":"Defective cholesterol biosynthesis in Smith - Lemli - Opitz syndrome","author":"Irons","year":"1993","journal-title":"Lancet"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1007\/s00392-004-0165-2","article-title":"von Sitosterolemia a rare disease Are elevated plant sterols an additional risk factor","volume":"93","author":"Sudhop","year":"2004","journal-title":"Z Kardiol"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1097\/MPG.0b013e318170956a","article-title":"Sterol profiling in red blood cell membranes and plasma of newborns receiving total par - enteral nutrition","volume":"47","author":"Pianese","year":"2008","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1111\/j.1651-2227.1996.tb14190.x","article-title":"Clinical and biochemical screening for Smith - Lemli - Opitz syndrome Italian SLOS collaborative group","volume":"85","author":"Guzzetta","year":"1996","journal-title":"Acta Paediatr"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1086\/342668","article-title":"Lathosterolosis , a novel multiple - malformation \/ mental retardation syndrome due to deficiency of beta - hydroxyste - roid - delta - desaturase","volume":"71","author":"Brunetti","year":"2002","journal-title":"Am J Hum Genet"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1016\/S0022-2275(20)33456-8","article-title":"WE Sterol balance in the Smith - Lemli - Opitz syndrome : reduction in whole body cholesterol synthesis and normal bile acid production","volume":"41","author":"Steiner","year":"2000","journal-title":"J Lipid Res"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S0022-2275(20)31643-6","article-title":"Sterols in blood of normal and Smith - 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Lemli - Opitz syndrome : pathogenesis , diag - nosis and management","volume":"16","author":"Porter","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"ref141","doi-asserted-by":"publisher","first-page":"10545","DOI":"10.1007","article-title":"Latos - Bielen ska Differences between predicted and established diagnoses of Smith - Lemli - Opitz syndrome in the polish population : underdiagnosis or loss of affected fetuses s - Online First","volume":"010","author":"Jezela","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"2413","DOI":"10.1016\/S0022-2275(20)39722-4","article-title":"Identification of - nor - cholestatrien - beta - ol in patients with Smith - Lemli - Opitz syndrome","volume":"19","author":"Batta","year":"1995","journal-title":"J Lipid Res"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1136\/jmg.2007.053520","article-title":"Age and origin of major Smith - Lemli - Opitz syndrome ( SLOS ) mutations in European popula - 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and sex - specific pediatric reference intervals for biochemistry analytes as measured with the Ektachem - analyzer","volume":"700","author":"Lockitch","year":"1988","journal-title":"Clin Chem"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","article-title":"A rapid and sensitive method for the quantita - tion of microgram quantities of protein utilizing the principle of protein - dye binding","volume":"72","author":"Bradford","year":"1976","journal-title":"Anal Biochem"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1080\/pdp.21.2.153.181","article-title":"Cholesterol and development : the RSH Smith Lemli syndrome and related conditions","volume":"21","author":"Opitz","year":"2002","journal-title":"Pediatr Pathol Mol Med"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/S0022-2275(20)33442-8","article-title":"de Simvastatin : a new therapeutic approach for Smith - Lemli - Opitz syndrome","volume":"41","author":"Jira","year":"2000","journal-title":"J Lipid Res"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.37.5.321","article-title":"The Smith - Lemli - Opitz syndrome","volume":"37","author":"Kelley","year":"2000","journal-title":"J Med Genet"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S","article-title":"Porteous Clinical phenotype of desmosterolosis","volume":"75","author":"FitzPatrick","year":"1998","journal-title":"Am J Med Genet"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.plipres.2008.03.001","article-title":"Cholesterol homeostasis and the escape tendency ( activity ) of plasma membrane cholesterol","volume":"47","author":"Lange","year":"2008","journal-title":"Prog Lipid Res"},{"key":"ref41","first-page":"1385","article-title":"Spectrum of Delta dehydrocholesterol reductase mutations in : SLOS sterol profiles in plasma and erythrocyte membranes Article in press - uncorrected proof patients with the Smith - Lemli - Opitz RSH ) syndrome","volume":"7","author":"Yu","year":"2046","journal-title":"Hum Mol Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1073\/pnas.95.4.1899","article-title":"Molec - ular cloning and expression of the human delta - sterol reductase","volume":"7","author":"Moebius","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1093\/hmg\/ddg172","article-title":"Lathosterolosis : an inborn error of human and murine cholesterol synthesis due to lathosterol - desaturase deficiency","volume":"12","author":"Krakowiak","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref121","first-page":"280","article-title":"Terato - gen - mediated inhibition of target tissue response to Shh sig - naling","volume":"7","author":"Cooper","year":"1998","journal-title":"Science"},{"key":"ref21","first-page":"330","article-title":"Defective cholesterol biosynthesis associated with the Smith - Lemli - Opitz Syndrome","volume":"13","author":"Tint","year":"1994","journal-title":"N Engl J Med"},{"key":"ref221","first-page":"450","article-title":"A case of Antley - Bixler syndrome caused by compound heterozygous mutations of the cytochrome P oxidoreductase gene","volume":"80","author":"Ko","year":"2009","journal-title":"Eur J Pediatr"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1136\/jmg.40.12.937","article-title":"Congenital abnormalities reported in Pelger - Hue t homozygosity as compared to Greenberg \/ HEM dysplasia : highly variable expression of allelic phenotypes","volume":"40","author":"Oosterwijk","year":"2003","journal-title":"J Med Genet"},{"key":"ref231","first-page":"236","article-title":"Diagnosis of Smith - Lemli - Opitz syndrome by gas chromatography \/ mass spectrometry of - dehydrocholesterol in plasma , amniotic fluid and cultured skin fibroblasts","volume":"7","author":"Kelley","year":"1995","journal-title":"Clin Chim Acta"},{"key":"ref361","first-page":"131","article-title":"NA Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in lipo - 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