{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:13:16Z","timestamp":1757704396330},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":10019,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1978,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two pregnancies at risk for Wolman disease were monitored by assay and electrophoresis of acid lipase in cultured amniotic\u2010fluid cells. Cells from patient 1 had 5% of control levels of acid lipase, using <jats:sup>14<\/jats:sup>C\u2010triolein as substrate; however, when artificial substrates (esters of 4\u2010methylumbelliferone and p\u2010nitrophenol) were used to measure acid lipase, these cells had 30% of control levels. Electrophoresis of cell extracts revealed the absence of the A form of acid lipase, consistent with the diagnosis of Wolman disease. Analysis of fetal tissues following prostaglandin termination of this pregnancy confirmed the diagnosis. Assay of fetal\u2010skin fibroblasts with <jats:sup>14<\/jats:sup>C\u2010triolein, as well as with artificial substrates, showed marked deficiency of acid lipase activity. Electrophoresis of fetal\u2010tissue extracts also demonstrated the absence of the A form of acid lipase. Amniotic\u2010fluid cells from patient 2 showed normal levels of acid lipase with all substrates tested; the electrophoretic pattern of acid lipase was normal. The results suggest that the prenatal diagnosis of Wolman disease be made using the radioassay of acid lipase and\/or electrophoresis.<\/jats:p>","DOI":"10.1002\/ajmg.1320020409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:30:52Z","timestamp":1118511052000},"page":"397-407","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal diagnosis of Wolman disease"],"prefix":"10.1002","volume":"2","author":[{"given":"Paul M.","family":"Coates","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean A.","family":"Cortner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael T.","family":"Mennuti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael M.","family":"Kaback","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"453","volume-title":"Lysosomes and Storage Diseases","author":"Patrick AD","year":"1973"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197611000-00005"},{"key":"e_1_2_1_4_2","first-page":"810","article-title":"Lipid accumulation and acid lipase deficiency in fibroblasts from a family with Wolman's disease, and their apparent correction in vitro","volume":"80","author":"Kyriakides EC","year":"1972","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.1.49"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1542\/peds.46.3.431","article-title":"Lipid studies in Wolman's disease","volume":"46","author":"Kyriakides EC","year":"1970","journal-title":"Pediatrics"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(76)90426-5"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320020409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320020409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T18:45:12Z","timestamp":1696704312000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320020409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,1]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1978,1]]}},"alternative-id":["10.1002\/ajmg.1320020409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320020409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,1]]}}}