{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T18:06:29Z","timestamp":1768586789529,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T00:00:00Z","timestamp":1491264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>No published case of Wolman's disease has described the prenatal sonographic findings. We present a case in which a third\u2010trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman's disease, also known as lysosomal acid lipase (LIPA) deficiency, is a rare autosomal\u2010recessive disorder characterized by complete absence of the LIPA enzyme. The diagnosis of Wolman's disease was made postnatally by biochemical testing, which indicated absence of LIPA enzyme activity and gene sequencing, which confirmed homozygosity for the G66V mutation within the LIPA gene. \u00a9 2017 Wiley Periodicals, Inc. <jats:italic>J Clin Ultrasound<\/jats:italic> <jats:bold>46<\/jats:bold>:66\u201368, 2018;<\/jats:p>","DOI":"10.1002\/jcu.22481","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T16:19:57Z","timestamp":1491409197000},"page":"66-68","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal sonographic findings in a case of Wolman's disease"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5534-6928","authenticated-orcid":false,"given":"Matthew J.","family":"Blitz","sequence":"first","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine North Shore University Hospital Manhasset NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burton","family":"Rochelson","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine North Shore University Hospital Manhasset NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Sood","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology Kaiser Permanente, Walnut Creek Medical Center Walnut CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin G.","family":"Bialer","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Hofstra Northwell School of Medicine, Cohen Children's Medical Center of New York New Hyde Park NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nidhi","family":"Vohra","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine North Shore University Hospital Manhasset NY"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,4]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.7.2718"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0203"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/2221067a0"},{"key":"e_1_2_4_5_1","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1542\/peds.28.5.742","article-title":"Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant","volume":"28","author":"Wolman M","year":"1961","journal-title":"Pediatrics"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0162"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31828b36ac"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000935"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.1.49"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.273"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S86760"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2014.06.022"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02013008"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388726"},{"issue":"1","key":"e_1_2_4_15_1","first-page":"125","article-title":"Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and cholesteryl ester storage diseases","volume":"12","author":"Porto AF","year":"2014","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_4_16_1","first-page":"2014","article-title":"Wolman disease in an infant","author":"Shenoy P","year":"2014","journal-title":"BMJ Case Rep"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcu.22481","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.22481","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T14:10:44Z","timestamp":1695564644000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.22481"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,4]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/jcu.22481"],"URL":"https:\/\/doi.org\/10.1002\/jcu.22481","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"value":"0091-2751","type":"print"},{"value":"1097-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,4]]}}}