{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T10:23:51Z","timestamp":1777631031718,"version":"3.51.4"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,2,3]],"date-time":"2011-02-03T00:00:00Z","timestamp":1296691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Circulating biomarkers are important surrogates for monitoring disease activity in type I Gaucher disease (GD1). We and others have reported low high\u2010density lipoprotein (HDL) in GD1. We assessed HDL cholesterol as a biomarker of GD1, with respect to its correlation with indicators of disease severity and its response to imiglucerase enzyme replacement therapy (ERT). In 278 consecutively evaluated GD1 patients, we correlated HDL cholesterol, chitotriosidase, and angiotensin\u2010converting enzyme (ACE) with indicators of disease severity. Additionally, we measured the response of these biomarkers to ERT. HDL cholesterol was negatively correlated with spleen volume, liver volume, and GD severity score index; the magnitude of this association of disease severity with HDL cholesterol was similar to that for ACE and for chitotriosidase. Within individual patients monitored over many years, there was a strikingly strong correlation of HDL with liver and spleen volumes; there was a similarly strong correlation of chitotriosidase and ACE with disease severity in individual patients monitored serially over many years (chitotriosidase <jats:italic>r<\/jats:italic>\u2009=\u20090.96 to 0.98, ACE <jats:italic>r\u2009<\/jats:italic>\u2009=\u20090.88 to 0.94, and HDL <jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.84 to \u22120.94, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). ERT for 3 years resulted in a striking increase of HDL while serum levels of chitotriosidase and ACE decreased. Our results reveal markedly low HDL cholesterol in untreated GD1, a correlation with indicators of disease severity in GD1, and a rise towards normal after ERT. These findings suggest HDL cholesterol merits inclusion within the \u201cbiomarker basket\u201d for monitoring of patients with GD1.<\/jats:p>","DOI":"10.1007\/s10545-010-9271-7","type":"journal-article","created":{"date-parts":[[2011,2,2]],"date-time":"2011-02-02T14:39:30Z","timestamp":1296657570000},"page":"429-437","source":"Crossref","is-referenced-by-count":29,"title":["Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity"],"prefix":"10.1002","volume":"34","author":[{"given":"Philip","family":"Stein","sequence":"first","affiliation":[{"name":"Department of Pediatrics, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street, LMP 4093 New Haven CT 06562 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruhua","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street, LMP 4093 New Haven CT 06562 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street, LMP 4093 New Haven CT 06562 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory M.","family":"Pastores","sequence":"additional","affiliation":[{"name":"NYU Department of Neurology, Neurogenetics Unit 403 East 34th Street New York NY 10016 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pramod K.","family":"Mistry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street, LMP 4093 New Haven CT 06562 USA"},{"name":"Department of Internal Medicine, National Gaucher Disease Treatment Center Yale University School of Medicine 333 Cedar Street, LMP 4093 New Haven CT 06562 USA"},{"name":"Pediatric Gastroenterology and Hepatology Yale University School of Medicine PO Box 208064 333 Cedar Street; LMP 4093 New Haven CT 06520 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,2,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02110.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301804200"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08214.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.40.25680"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1612"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1586\/epr.09.54"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1309\/BG5VA8JRDQH1M7HN"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(06)52001-7"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)00188-9"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073600"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1139\/o81-057"},{"key":"e_1_2_6_14_1","first-page":"1169","article-title":"Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases","volume":"11","author":"Cox TM","year":"2010","journal-title":"Curr Opin Investig Drugs"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.05.005"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2008.08.027"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2007.12.001"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00799.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61522-6"},{"key":"e_1_2_6_20_1","unstructured":"GrabowskiGA PetskoGA KolodnyE(2010)Gaucher disease.In:ValleD BeaudetA VogelsteinBet al (eds)OMMBID. 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