{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,8]],"date-time":"2024-06-08T13:17:48Z","timestamp":1717852668897},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,5,15]],"date-time":"2013-05-15T00:00:00Z","timestamp":1368576000000},"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":[[2013,12]]},"abstract":"<jats:p>The patient, a 69\u2010year\u2010old man, had a chief complaint of hepatomegaly. The liver was palpated four fingerbreadths below the costal margin, and the spleen was three fingerbreadths below the costal margin. There were no other abnormal findings. Laparoscopy showed that the liver resembled an orange\u2010yellow crayon in appearance and was nodular. The pathological findings of the liver biopsy tissue were consistent with liver cirrhosis. Inside the fibrous septum was an apparent aggregation of enlarged macrophages that phagocytosed lipid components, as well as enlarged <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>upffer cells that phagocytosed lipid droplets. Electron microscopy showed the lipid droplets to have a moth\u2010eaten appearance. Using monocytes extracted from the peripheral blood, acid lipase activity was measured by fluorescence spectrometry using 4\u2010methylumbelliferone palmitate as a substrate. This patient's human lysosomal acid lipase activity was 0.020\u2009nM\/min per 10<jats:sup>6<\/jats:sup>\u2009cells, corresponding to 5.9% of that in healthy subjects (0.332\u2009\u00b1\u20090.066\u2009nM\/min per 10<jats:sup>6<\/jats:sup>\u2009cells). Cholesterol ester storage disease was therefore diagnosed. The acid lipase <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> base sequence obtained from leukocytes by direct sequencing was compared with a library. This patient had a point mutation of <jats:styled-content style=\"fixed-case\">N250H\/N250H<\/jats:styled-content> in exon 7, a novel gene abnormality that has not previously been reported.<\/jats:p>","DOI":"10.1111\/hepr.12087","type":"journal-article","created":{"date-parts":[[2013,5,16]],"date-time":"2013-05-16T03:47:26Z","timestamp":1368676046000},"page":"1361-1367","source":"Crossref","is-referenced-by-count":5,"title":["Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (<scp>N250H<\/scp>) of lysosomal acid lipase gene"],"prefix":"10.1111","volume":"43","author":[{"given":"Seiichiro","family":"Kojima","sequence":"first","affiliation":[{"name":"Department of Gastroenterology Tokai University Hachioji Hospital  Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norihito","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Tokai University Hachioji Hospital  Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Takashimizu","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Tokai University Hachioji Hospital  Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatehiro","family":"Kagawa","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology Department of Internal Medicine Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Shiraishi","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology Department of Internal Medicine Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Koizumi","sequence":"additional","affiliation":[{"name":"Department of Radiology Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken\u2010ichi","family":"Hirabayashi","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoichi","family":"Ohkubo","sequence":"additional","affiliation":[{"name":"Department of Teaching and Research Support Center Basic Medical Science and Molecular Life Science Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kamiguchi","sequence":"additional","affiliation":[{"name":"Department of Teaching and Research Support Center Basic Medical Science and Molecular Life Science Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michio","family":"Tsuda","sequence":"additional","affiliation":[{"name":"Department of Teaching and Research Support Center Basic Medical Science and Molecular Life Science Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Mine","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology Department of Internal Medicine Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,15]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"3551","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Assmann G","year":"2001"},{"issue":"97","key":"e_1_2_6_3_1","first-page":"77","article-title":"Isolation of mononuclear cells and granulocytes from human blood. 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