{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:05:21Z","timestamp":1790366721983,"version":"4.1.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","lipidjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.jacl.2026.07.002","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T15:38:43Z","timestamp":1783525123000},"page":"2078-2084","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening"],"prefix":"10.1016","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1258-8310","authenticated-orcid":false,"given":"Masahito","family":"Michikura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7600-2059","authenticated-orcid":false,"given":"Mariko","family":"Harada-Shiba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Matsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7247-1448","authenticated-orcid":false,"given":"Masatsune","family":"Ogura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4638-7752","authenticated-orcid":false,"given":"Hideaki","family":"Morita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2026.07.002_bib1","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.atherosclerosis.2017.08.021","article-title":"Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants","volume":"265","author":"Pisciotta","year":"2017","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2026.07.002_bib2","doi-asserted-by":"crossref","first-page":"3277","DOI":"10.1016\/S0021-9258(17)33434-8","article-title":"Restoration of a regulatory response to low density lipoprotein in acid lipase-deficient human fibroblasts","volume":"251","author":"Brown","year":"1976","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2026.07.002_bib3","doi-asserted-by":"crossref","first-page":"558","DOI":"10.5551\/jat.CR005","article-title":"Guidelines for the diagnosis and treatment of adult familial hypercholesterolemia 2022","volume":"30","author":"Harada-Shiba","year":"2023","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2026.07.002_bib4","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1253\/circj.CJ-17-0041","article-title":"Achilles tendon ultrasonography for diagnosis of familial hypercholesterolemia among Japanese subjects","volume":"81","author":"Michikura","year":"2017","journal-title":"Circ J"},{"key":"10.1016\/j.jacl.2026.07.002_bib5","article-title":"Distinguishing lysosomal acid lipase deficiency from familial hypercholesterolemia","volume":"24","author":"Sheth","year":"2023","journal-title":"JACC Case Rep"},{"key":"10.1016\/j.jacl.2026.07.002_bib6","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1091\/mbc.1.9.661","article-title":"Intercellular transport of lysosomal acid lipase mediates lipoprotein cholesteryl ester metabolism in a human vascular endothelial cell-fibroblast coculture system","volume":"1","author":"Sando","year":"1990","journal-title":"Cell Regul"},{"key":"10.1016\/j.jacl.2026.07.002_bib7","doi-asserted-by":"crossref","first-page":"30624","DOI":"10.1074\/jbc.M111.274381","article-title":"Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease","volume":"286","author":"Bowden","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2026.07.002_bib8","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/S0168-8278(00)80407-9","article-title":"Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer","volume":"32","author":"Elleder","year":"2000","journal-title":"J Hepatol"},{"key":"10.1016\/j.jacl.2026.07.002_bib9","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1007\/PL00008203","article-title":"Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma","volume":"436","author":"Elleder","year":"2000","journal-title":"Virchows Arch"},{"key":"10.1016\/j.jacl.2026.07.002_bib10","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/j.jhep.2013.02.014","article-title":"Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease","volume":"58","author":"Bernstein","year":"2013","journal-title":"J Hepatol"},{"key":"10.1016\/j.jacl.2026.07.002_bib11","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2017.93","article-title":"Familial hypercholesterolaemia","volume":"3","author":"Defesche","year":"2017","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.jacl.2026.07.002_bib12","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1093\/aje\/kwh238","article-title":"Familial hypercholesterolemia, peripheral arterial disease, and stroke: a HuGE minireview","volume":"160","author":"Hutter","year":"2004","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.jacl.2026.07.002_bib13","doi-asserted-by":"crossref","unstructured":"Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ.1991;303:893-896.","DOI":"10.1136\/bmj.303.6807.893"},{"key":"10.1016\/j.jacl.2026.07.002_bib14","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2005.01484.x","article-title":"Pathogenesis, detection and treatment of Achilles tendon xanthomas","volume":"35","author":"Tsouli","year":"2005","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.jacl.2026.07.002_bib15","doi-asserted-by":"crossref","first-page":"4503","DOI":"10.1016\/j.febslet.2005.06.087","article-title":"Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL","volume":"579","author":"Artieda","year":"2005","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jacl.2026.07.002_bib16","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.jot.2018.07.003","article-title":"Tendon pathology in hypercholesterolaemia patients: epidemiology, pathogenesis and management","volume":"16","author":"Yang","year":"2019","journal-title":"J Orthop Translat"},{"key":"10.1016\/j.jacl.2026.07.002_bib17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2174\/2213988501711010001","article-title":"Targeting wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development","volume":"11","author":"Aguisanda","year":"2017","journal-title":"Curr Chem Genom Transl Med"},{"key":"10.1016\/j.jacl.2026.07.002_bib18","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1161\/01.ATV.0000183888.48105.d1","article-title":"The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias","volume":"25","author":"Junyent","year":"2005","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2026.07.002_bib19","doi-asserted-by":"crossref","first-page":"3033","DOI":"10.2169\/internalmedicine.3811-19","article-title":"Sitosterolemia exhibiting severe hypercholesterolemia with tendon xanthomas due to compound heterozygous ABCG5 gene mutations treated with ezetimibe and alirocumab","volume":"59","author":"Tanaka","year":"2020","journal-title":"Intern Med"},{"key":"10.1016\/j.jacl.2026.07.002_bib20","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00256-006-0139-8","article-title":"Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata","volume":"36","author":"Smithard","year":"2007","journal-title":"Skeletal Radiol"},{"key":"10.1016\/j.jacl.2026.07.002_bib21","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","article-title":"Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters","volume":"290","author":"Berge","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.jacl.2026.07.002_bib22","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s12944-022-01710-1","article-title":"Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation","volume":"21","author":"Zhang","year":"2022","journal-title":"Lipids Health Dis"},{"key":"10.1016\/j.jacl.2026.07.002_bib23","doi-asserted-by":"crossref","first-page":"905","DOI":"10.5551\/jat.RV17055","article-title":"Cerebrotendinous xanthomatosis: molecular pathogenesis, clinical spectrum, diagnosis, and disease-modifying treatments","volume":"28","author":"Koyama","year":"2021","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2026.07.002_bib24","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/s13023-014-0179-4","article-title":"Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management","volume":"9","author":"Nie","year":"2014","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287426004307?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287426004307?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T19:57:27Z","timestamp":1790366247000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287426004307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":24,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S1933287426004307"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2026.07.002","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2026.07.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 National Lipid Association. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}