{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:15:22Z","timestamp":1791281722885,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,5,27]],"date-time":"2011-05-27T00:00:00Z","timestamp":1306454400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla disease. Screening for SASD is performed by determination of free sialic acid (FSA) in urine or amniotic fluid supernatant (AFS). Subsequent diagnosis of SASD is performed by quantification of FSA in cultured fibroblasts and by mutation analysis of the sialin gene,<jats:italic>SLC17A5<\/jats:italic>. We describe simple quantitative procedures to determine FSA as well as conjugated sialic acid in AFS, and FSA in cultured fibroblasts, using isotope dilution (<jats:sup>13<\/jats:sup>C<jats:sub>3<\/jats:sub>\u2010sialic acid) and multiple reaction monitoring LC\u2010ESI\u2010MS\/MS. The whole procedure can be performed in 2\u20134 h. Reference values in AFS were 0\u20138.2 \u03bcmol\/L for 15\u201325 weeks of gestation and 3.2\u201012.0 \u03bcmol\/L for 26\u201338 weeks of gestation. In AFS samples from five fetuses affected with ISSD FSA was 23.9\u201058.9 \u03bcmol\/L demonstrating that this method is able to discriminate ISSD pregnancies from normal ones. The method was also validated for determination of FSA in fibroblast homogenates. FSA in SASD fibroblasts (ISSD; 20\u2013154 nmol\/mg protein, intermediate SASD; 12.9\u201015.1 nmol\/mg, Salla disease; 5.9\u20107.4 nmol\/mg) was clearly elevated compared to normal controls (0.3\u20102.2 nmol\/mg). In conclusion, we report simple quantitative procedures to determine FSA in AFS and cultured fibroblasts improving both prenatal diagnostic efficacy for ISSD as well as confirmatory testing in cultured fibroblasts following initial screening in urine or AFS.<\/jats:p>","DOI":"10.1007\/s10545-011-9351-3","type":"journal-article","created":{"date-parts":[[2011,5,26]],"date-time":"2011-05-26T05:51:26Z","timestamp":1306389086000},"page":"1069-1073","source":"Crossref","is-referenced-by-count":25,"title":["Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC\u2010MS\/MS"],"prefix":"10.1002","volume":"34","author":[{"given":"Jeroen","family":"den van Bosch","sequence":"first","affiliation":[{"name":"Department Clinical Genetics Erasmus Medical Center Dr. Molewaterplein 50 Rotterdam 3015GE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda F.","family":"Oemardien","sequence":"additional","affiliation":[{"name":"Department Clinical Genetics Erasmus Medical Center Dr. Molewaterplein 50 Rotterdam 3015GE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata I.","family":"Srebniak","sequence":"additional","affiliation":[{"name":"Department Clinical Genetics Erasmus Medical Center Dr. Molewaterplein 50 Rotterdam 3015GE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Piraud","sequence":"additional","affiliation":[{"name":"Laboratoire des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme et D\u00e9pistage N\u00e9onatal Centre de Biologie Est, Hospices Civils de Lyon Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan G. M.","family":"Huijmans","sequence":"additional","affiliation":[{"name":"Department Clinical Genetics Erasmus Medical Center Dr. Molewaterplein 50 Rotterdam 3015GE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans W.","family":"Verheijen","sequence":"additional","affiliation":[{"name":"Department Clinical Genetics Erasmus Medical Center Dr. Molewaterplein 50 Rotterdam 3015GE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George J. G.","family":"Ruijter","sequence":"additional","affiliation":[{"name":"Department Clinical Genetics Erasmus Medical Center Dr. Molewaterplein 50 Rotterdam 3015GE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,5,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1431"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/303077"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029744"},{"key":"e_1_2_6_5_1","first-page":"155","article-title":"The inborn errors of sialic acid metabolism and their laboratory investigation","volume":"52","author":"Gopaul KP","year":"2006","journal-title":"Clin Lab"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2006.03.007"},{"key":"e_1_2_6_7_1","first-page":"277","article-title":"Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease","volume":"10","author":"Lefebvre G","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957729"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06250-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280216"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3961501"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)89468-X"},{"key":"e_1_2_6_13_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0065-3101(24)00037-9","article-title":"Hydrops fetalis: lysosomal storage disorders in extremis","volume":"46","author":"Stone DL","year":"1999","journal-title":"Adv Pediatr"},{"key":"e_1_2_6_14_1","first-page":"85","article-title":"Disorders of free sialic acid","volume":"85","author":"Suwannarat P","year":"2005","journal-title":"Molec Genet Metab"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2006.10.066"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2010.03.020"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00406-4"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/70585"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9351-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,7]],"date-time":"2024-04-07T04:54:22Z","timestamp":1712465662000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9351-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,27]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1007\/s10545-011-9351-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9351-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,27]]}}}