{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:00:05Z","timestamp":1787317205728,"version":"build-2736575974"},"reference-count":103,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T00:00:00Z","timestamp":1616025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The Chanarin\u2013Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.<\/jats:p>","DOI":"10.1111\/liv.14794","type":"journal-article","created":{"date-parts":[[2021,1,17]],"date-time":"2021-01-17T06:17:35Z","timestamp":1610864255000},"page":"905-914","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Chanarin\u2010Dorfman Syndrome: A comprehensive review"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6468-3483","authenticated-orcid":false,"given":"Erol","family":"Cakmak","sequence":"first","affiliation":[{"name":"Department of Gastroenterology Cumhuriyet University Faculty of Medicine Sivas Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gokhan","family":"Bagci","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Cumhuriyet University Faculty of Medicine Sivas Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1953.tb07038.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1974.01630080059017"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5957.553"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrgastro.2017.32"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2006.03.005"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.03.010"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04051.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1951"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/324121"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12520.x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.036"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06828.x"},{"key":"e_1_2_9_14_1","first-page":"108","article-title":"An original mutation of CGI\u201058 in a new case of Dorfman\u2010Chanarin syndrome","volume":"56","author":"Selma ZB","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08544.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-008-0559-8"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.10.016"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.03.002"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2010.01869.x"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-33"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2011.08780.x"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2011.04164.x"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10252.x"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.013"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2011.12.007"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e318271c915"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.4274\/tjh.93798"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12170"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-32"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2014.05.009"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.365"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12651"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.4103\/0022-3859.138826"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.10.016"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.01.011"},{"key":"e_1_2_9_36_1","first-page":"11","article-title":"Chanarin\u2010Dorfman syndrome in a 7\u2010year\u2010old child: when myophathy and skin involvement are all but one","volume":"31","author":"Barn\u00e9rias C","year":"2015","journal-title":"Med Sci (Paris)"},{"key":"e_1_2_9_37_1","first-page":"300","article-title":"Chanarin\u2010Dorfman syndrome: a novel mutation in a Turkish girl","volume":"57","author":"Unlusoy\u2010Aksu A","year":"2015","journal-title":"Turkish Journal of Pediatrics"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.09.004"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.10.015"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13163"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15156"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.29252\/.22.6.415"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0610-0"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3087"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2008.05.027"},{"key":"e_1_2_9_46_1","first-page":"105","article-title":"Chanarin\u2010Dorfman syndrome","volume":"30","author":"Kalyon S","year":"2019","journal-title":"The Turkish Journal Of Gastroenterology"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2008.10.012"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.6.798"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14610"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14609"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2018.11.005"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01429.x"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290219"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V28.2.258.258"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1159\/000248570"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1994.tb03387.x"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.57737"},{"key":"e_1_2_9_58_1","doi-asserted-by":"crossref","first-page":"549","DOI":"10.4103\/ijd.IJD_613_16","article-title":"Chanarin\u2010Dorfman syndrome with absent jordan's anomaly","volume":"62","author":"Arora S","year":"2017","journal-title":"Indian J Dermatol"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880020102"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026692301303"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00818.x"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1080\/000155500750012504"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1988.tb01165.x"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2017.07.016"},{"key":"e_1_2_9_65_1","first-page":"116","article-title":"A case with full clinical manifestations of Dorfman\u2010Chanarin syndrome","volume":"2","author":"\u00c7uhaci F","year":"2007","journal-title":"Central European Journal of Medicine"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-199802000-00016"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2017.10.022"},{"key":"e_1_2_9_68_1","first-page":"88","article-title":"Dorfman\u2010Chanarin syndrome: a rare neutral lipid storage disease","volume":"37","author":"Tullu MS","year":"2000","journal-title":"Indian Pediatr"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1994.tb02705.x"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1990.tb04758.x"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.142.3.402"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.3928\/00904481-20080501-11"},{"key":"e_1_2_9_73_1","first-page":"104","article-title":"Chanarin Dorfman syndrome: a case report","volume":"8","author":"Bolatturk OF","year":"2018","journal-title":"Bozok Med J"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200417"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12288-011-0091-1"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00675.x"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1159\/000096784"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1746.2004.03752.x"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2008.03793.x"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.5144\/0256-4947.2002.354"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0646-9"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.4061\/2011\/341372"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(96)80251-0"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10188"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(87)70266-7"},{"key":"e_1_2_9_86_1","first-page":"263","article-title":"Dorfman\u2010Chanarin syndrome: a case with hyperlipidemia","volume":"48","author":"Duzovali O","year":"2006","journal-title":"Turkish Journal of Pediatrics"},{"key":"e_1_2_9_87_1","first-page":"650","article-title":"Dorfman\u2010Chanarin syndrome with cirrhosis","volume":"40","author":"Gupta P","year":"2008","journal-title":"Patholog"},{"key":"e_1_2_9_88_1","first-page":"787","article-title":"Chanarin\u2010Dorfman syndrome","volume":"26","author":"Waheed N","year":"2016","journal-title":"Journal Of The College Of Physicians And Surgeons"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajg.2015.06.006"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12664-012-0212-2"},{"key":"e_1_2_9_91_1","first-page":"482","article-title":"Congenital ichtyosis and hetomegaly: think about Chanarin Dorfman syndrome","volume":"93","author":"Ben Ameur S","year":"2015","journal-title":"Tunis Med"},{"key":"e_1_2_9_92_1","first-page":"1054","article-title":"Chanarin Dorfman syndrome neonatal diagnosis and 3\u2010year follow\u2010up","volume":"42","author":"Gupta P","year":"2005","journal-title":"Indian Pediatr"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1111\/jgh.12852"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.30650"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199711000-00011"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-145-2-200607180-00021"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8498-8"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.631"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.17826\/cutf.71286"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.5070\/D39CV1V629"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(01)00092-7"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.4103\/0377-4929.72098"},{"key":"e_1_2_9_103_1","first-page":"184","article-title":"Neutral lipid storage disease\u2010response to dietary intervention","volume":"77","author":"Talia K","year":"1997","journal-title":"Arch Dis Child"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transproceed.2010.07.105"}],"container-title":["Liver International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/liv.14794","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/liv.14794","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/liv.14794","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T10:46:58Z","timestamp":1724323618000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/liv.14794"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,18]]},"references-count":103,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1111\/liv.14794"],"URL":"https:\/\/doi.org\/10.1111\/liv.14794","archive":["Portico"],"relation":{},"ISSN":["1478-3223","1478-3231"],"issn-type":[{"value":"1478-3223","type":"print"},{"value":"1478-3231","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,18]]},"assertion":[{"value":"2020-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}