{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:24:36Z","timestamp":1788305076251,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T00:00:00Z","timestamp":1442534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hepatology Research"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cholesterol ester storage disease (CESD) is an autosomal recessive disorder caused by deficient lysosomal acid lipase (LAL) activity, resulting in cholesteryl ester (CE) accumulation. CESD patients have liver disease associated with mixed dyslipidemia leading to liver failure. We here report the case of an 11\u2010year\u2010old male CESD patient with a novel mutation who had the chief complaint of massive hepatomegaly. The patient's liver reached to his pelvis, and his spleen was 2\u00a0cm below the costal margin. The patient had elevated serum liver enzymes and mixed dyslipidemia. The liver biopsy tissue showed characteristic CESD pathology, which included microvesicular steatosis, mild fibrosis and foamy macrophages. Electron microscopy showed a remnant cleft of CE crystals, and dried blood spot testing showed reduced LAL activity. We identified compound heterozygous mutations in the <jats:italic>LIPA<\/jats:italic> gene in this patient, namely, c.607G&gt;C and c.791T&gt;C. The former mutation was previously reported only in a Japanese patient, whereas the latter mutation is novel. The findings of this study suggest that <jats:italic>LIPA<\/jats:italic> gene mutations in Japanese CESD patients are different from those in Western patients. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed, and thus the possibility of CESD should be considered in patients with hepatosplenomegaly and dyslipidemia.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hepr.12574","type":"journal-article","created":{"date-parts":[[2015,9,19]],"date-time":"2015-09-19T02:33:34Z","timestamp":1442630014000},"page":"477-482","source":"Crossref","is-referenced-by-count":6,"title":["Cholesterol ester storage disease with a novel <i>LIPA<\/i> mutation (L264P) that presented massive hepatomegaly: A case report"],"prefix":"10.1111","volume":"46","author":[{"given":"Naomi","family":"Kuranobu","sequence":"first","affiliation":[{"name":"Division of Pediatrics and Perinatology Tottori University Faculty of Medicine  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Murakami","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Perinatology Tottori University Faculty of Medicine  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Perinatology Tottori University Faculty of Medicine  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rei","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Perinatology Tottori University Faculty of Medicine  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayumi","family":"Takamura","sequence":"additional","affiliation":[{"name":"Advanced Clinical Research Center Southern TOHOKU Research Institute for Neuroscience  Fukushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiko","family":"Umeda","sequence":"additional","affiliation":[{"name":"Advanced Clinical Research Center Southern TOHOKU Research Institute for Neuroscience  Fukushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshikatsu","family":"Eto","sequence":"additional","affiliation":[{"name":"Advanced Clinical Research Center Southern TOHOKU Research Institute for Neuroscience  Fukushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susumu","family":"Kanzaki","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Perinatology Tottori University Faculty of Medicine  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)40786-2"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)38180-3"},{"issue":"33","key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"22479","DOI":"10.1016\/S0021-9258(18)54597-X","article-title":"Cloning and expression of cDNA encoding human lysosomal acid lipase\/cholesteryl ester hydrolase. 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