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While it is well known that all neonates with type IV present with hepatomegaly, a previously unrecognized presentation is that of cholestatic jaundice and rapidly evolving liver failure. We describe 2 siblings who presented with jaundice in the neonatal period and discuss the clinical data and variation in pathologic findings that should be considered for the diagnosis.<\/jats:p>","DOI":"10.2350\/07-08-0318.1","type":"journal-article","created":{"date-parts":[[2008,9,12]],"date-time":"2008-09-12T19:02:58Z","timestamp":1221246178000},"page":"305-308","source":"Crossref","is-referenced-by-count":19,"title":["Farber's Disease Type IV Presenting with Cholestasis and Neonatal Liver Failure: Report of Two Cases"],"prefix":"10.1177","volume":"11","author":[{"given":"Asha","family":"Willis","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Pediatric Hepatology, Mount Sinai School of Medicine, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cherie","family":"Vanhuse","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly P.","family":"Newton","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pediatric Hepatology, Mount Sinai School of Medicine, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Wasserstein","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Genomic Sciences and Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella A.","family":"Morotti","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,5,1]]},"reference":[{"key":"bibr1-07-08-0318.1","first-page":"3573","volume-title":"The Metabolic Basis of Inherited Disease","author":"Moser H","year":"2000"},{"key":"bibr2-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81106-3"},{"key":"bibr3-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1006\/bmme.1995.1017"},{"key":"bibr4-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050603"},{"key":"bibr5-07-08-0318.1","first-page":"111a","volume":"35","author":"Pierpont M","year":"1983","journal-title":"Am Soc Hum Genet"},{"key":"bibr6-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.25-11-388"},{"key":"bibr7-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1007156"},{"key":"bibr8-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-200207000-00011"},{"key":"bibr9-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799842"},{"key":"bibr10-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.3109\/01913128709048433"},{"key":"bibr11-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442139"},{"key":"bibr12-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280528"},{"key":"bibr13-07-08-0318.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0019-z"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/07-08-0318.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.2350\/07-08-0318.1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/07-08-0318.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:35:57Z","timestamp":1777602957000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.2350\/07-08-0318.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.2350\/07-08-0318.1"],"URL":"https:\/\/doi.org\/10.2350\/07-08-0318.1","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7]]}}}