{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:52:14Z","timestamp":1777884734574,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:p>A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a lysosomal storage disease within the liver and cardiac muscle. Enzyme assays for \u03b2-galactosidase, neuraminidase, \u03b1-l-iduronidase, \u03b2-glucuronidase, \u03b2-glucosidase, Morquio disease type A enzyme, \u03b2-fucosidase, \u03b1-mannosidase, and \u03b2-mannosidase were all normal, ruling out many of the common storage diseases. Electron microscopy identified vacuoles within hepatocytes, Kupffer cells, and cardiac myocytes resembling the autophagic vacuoles characteristic of a group of diseases known as the autophagic vacuolar myopathies (AVMs). Because these diseases are exceptionally rare in females, and because such autophagic vacuoles have never before been described in liver, we propose a novel entity of \u201cAVM-like lysosomal storage disease\u201d presenting as nonimmune hydrops in a female fetus.<\/jats:p>","DOI":"10.2350\/07-11-03670.1","type":"journal-article","created":{"date-parts":[[2009,2,24]],"date-time":"2009-02-24T16:25:33Z","timestamp":1235492733000},"page":"53-58","source":"Crossref","is-referenced-by-count":6,"title":["An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Nonimmune Hydrops in a Female Fetus"],"prefix":"10.1177","volume":"12","author":[{"given":"Charis","family":"Kepron","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Blumenthal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Credit Valley Hospital, Mississauga, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada"},{"name":"Department of Obstetrics and Gynecology, Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernest","family":"Cutz","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada"},{"name":"Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[{"name":"Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Keating","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada"},{"name":"Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,11,1]]},"reference":[{"key":"bibr1-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.06.004"},{"key":"bibr2-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2006.00691.x"},{"key":"bibr3-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.12.007"},{"key":"bibr4-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1678-z"},{"key":"bibr5-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.967"},{"key":"bibr6-07-11-03670.1","first-page":"199","volume-title":"MacSween's Pathology of the Liver","author":"Portmann B","year":"2007","edition":"5"},{"key":"bibr7-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.5858\/2002-126-0630-TIGSD"},{"key":"bibr8-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120500323175"},{"key":"bibr9-07-11-03670.1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000069605.00498.BD"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/07-11-03670.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.2350\/07-11-03670.1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/07-11-03670.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:36:10Z","timestamp":1777602970000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.2350\/07-11-03670.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["10.2350\/07-11-03670.1"],"URL":"https:\/\/doi.org\/10.2350\/07-11-03670.1","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1]]}}}