{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T12:18:23Z","timestamp":1761394703772,"version":"3.40.5"},"reference-count":43,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T00:00:00Z","timestamp":1446336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,9,15]],"date-time":"2015-09-15T00:00:00Z","timestamp":1442275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","lipidjournal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1016\/j.jacl.2015.09.001","type":"journal-article","created":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T19:31:17Z","timestamp":1442604677000},"page":"837-846","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )"],"prefix":"10.1016","volume":"9","author":[{"given":"Livia","family":"Pisciotta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Vitali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elda","family":"Favari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Fossa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Pia","family":"Adorni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Leone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan","family":"Artom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Fresa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Calabresi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano","family":"Calandra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7080-9807","authenticated-orcid":false,"given":"Stefano","family":"Bertolini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2015.09.001_bib1","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1097\/01.hco.0000126584.12520.b5","article-title":"Genetic determinants of low high-density lipoprotein cholesterol","volume":"19","author":"Miller","year":"2004","journal-title":"Curr Opin Cardiol"},{"key":"10.1016\/j.jacl.2015.09.001_bib2","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.atherosclerosis.2005.10.033","article-title":"Differential diagnosis of familial high density lipoprotein deficiency syndromes","volume":"186","author":"von Eckardstein","year":"2006","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib3","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.jacl.2007.02.003","article-title":"Severe acquired (secondary) high-density lipoprotein deficiency","volume":"1","author":"Goldberg","year":"2007","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2015.09.001_bib4","doi-asserted-by":"crossref","first-page":"3399","DOI":"10.1210\/jc.2012-2185","article-title":"Approach to the patient with extremely low HDL-cholesterol","volume":"97","author":"Rader","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jacl.2015.09.001_bib5","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/BF03344156","article-title":"Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr)","volume":"29","author":"Cacciari","year":"2006","journal-title":"J Endocrinol Invest"},{"key":"10.1016\/j.jacl.2015.09.001_bib6","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1001\/jama.2013.280532","article-title":"Comparison of a novel method vs the Friedewald equation for estimating low-density lipoprotein cholesterol levels from the standard lipid profile","volume":"310","author":"Martin","year":"2013","journal-title":"JAMA"},{"key":"10.1016\/j.jacl.2015.09.001_bib7","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.atherosclerosis.2006.10.017","article-title":"Effects of fenofibrate and simvastatin on HDL-related biomarkers in low-HDL patients","volume":"195","author":"Franceschini","year":"2007","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib8","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.jacl.2012.01.006","article-title":"Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia","volume":"6","author":"Conca","year":"2012","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2015.09.001_bib9","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1161\/01.ATV.0000175751.30616.13","article-title":"The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes. A comprehensive study of molecular and biochemical findings in 13 unrelated Italian families","volume":"25","author":"Calabresi","year":"2005","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jacl.2015.09.001_bib10","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.atherosclerosissup.2012.10.020","article-title":"A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment","volume":"14","author":"Stefanutti","year":"2013","journal-title":"Atheroscler Suppl"},{"key":"10.1016\/j.jacl.2015.09.001_bib11","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.atherosclerosis.2003.11.009","article-title":"Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders","volume":"172","author":"Pisciotta","year":"2004","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib12","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1016\/j.cca.2011.08.001","article-title":"Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia","volume":"412","author":"Pisciotta","year":"2011","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jacl.2015.09.001_bib13","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1309\/AJCP7HQ2KWGHECIO","article-title":"Comprehensive and efficient HBB mutation analysis for detection of \u03b2-hemoglobinopathies in a pan-ethnic population","volume":"133","author":"Chan","year":"2010","journal-title":"Am J Clin Pathol"},{"key":"10.1016\/j.jacl.2015.09.001_bib14","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1001\/archinternmed.2011.661","article-title":"Severe high-density lipoprotein deficiency associated with autoantibodies against lecithin:cholesterol acyltransferase in non-Hodgkin lymphoma","volume":"172","author":"Simonelli","year":"2012","journal-title":"Arch Intern Med"},{"key":"10.1016\/j.jacl.2015.09.001_bib15","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1161\/CIRCGENETICS.111.960674","article-title":"Characterization of three kindred with familial combined hypolipidemia due to loss of function mutations of ANGPTL3","volume":"5","author":"Pisciotta","year":"2012","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacl.2015.09.001_bib16","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.atherosclerosis.2008.08.038","article-title":"Functional LCAT is not required for macrophage cholesterol efflux to human serum","volume":"204","author":"Calabresi","year":"2009","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib17","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-5448.2007.00271.x","article-title":"The metabolic syndrome in children and adolescents\u2014an IDF consensus report","volume":"8","author":"Zimmet","year":"2007","journal-title":"Pediatr Diabetes"},{"key":"10.1016\/j.jacl.2015.09.001_bib18","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1038\/ijo.2014.130","article-title":"Metabolic syndrome in young children: definition and results of the IDEFICS study","volume":"38","author":"Ahrens","year":"2014","journal-title":"Int J Obes"},{"key":"10.1016\/j.jacl.2015.09.001_bib19","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.atherosclerosis.2009.03.016","article-title":"Sex differences of carotid intima-media thickness in healthy children and adolescents","volume":"206","author":"B\u00f6hm","year":"2009","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib20","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1210\/er.2014-1062","article-title":"Hypertriglyceridemia in the genomic era: a new paradigm","volume":"36","author":"Lewis","year":"2015","journal-title":"Endocr Rev"},{"key":"10.1016\/j.jacl.2015.09.001_bib21","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s12933-014-0159-y","article-title":"Hypertriglyceridemia: a too long unfairly neglected major cardiovascular risk factor","volume":"13","author":"Tenenbaum","year":"2014","journal-title":"Cardiovasc Diabetol"},{"key":"10.1016\/j.jacl.2015.09.001_bib22","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/j.plipres.2004.05.002","article-title":"Contribution of domain structure and lipid interaction to the functionality of exchangeable human protein","volume":"43","author":"Saito","year":"2004","journal-title":"Prog Lipid Res"},{"key":"10.1016\/j.jacl.2015.09.001_bib23","doi-asserted-by":"crossref","first-page":"38570","DOI":"10.1074\/jbc.M111.260422","article-title":"Crystal structure of C-terminal truncated apolipoprotein A-I reveals the assembly of high density lipoprotein (HDL) by dimerization","volume":"286","author":"Mei","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2015.09.001_bib24","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.bbalip.2013.10.005","article-title":"The roles of C-terminal helices of human apolipoprotein A-I in formation of high-density lipoprotein particles","volume":"1841","author":"Nagao","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jacl.2015.09.001_bib25","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1194\/jlr.M007500","article-title":"Novel N-terminal mutation of human apolipoprotein A-I reduces self-association and impairs LCAT activation","volume":"52","author":"Weers","year":"2011","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2015.09.001_bib26","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1194\/jlr.M044743","article-title":"Surface behavior of apolipoprotein A-I and its deletion mutants at model lipoprotein interfaces","volume":"55","author":"Wang","year":"2014","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2015.09.001_bib27","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1021\/jm4005847","article-title":"Molecules that mimic apopiprotein A-I: potential agents for treating atherosclerosis","volume":"57","author":"Leman","year":"2014","journal-title":"J Med Chem"},{"key":"10.1016\/j.jacl.2015.09.001_bib28","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1016\/j.atherosclerosis.2014.05.935","article-title":"A novel ApoA-I truncation (ApoA-IMytilene) associated with decreased ApoA-I production","volume":"235","author":"Anthanont","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib29","doi-asserted-by":"crossref","first-page":"5469","DOI":"10.1074\/jbc.270.10.5469","article-title":"Carboxyl-terminal domain truncation alters apolipoprotein A-I in\u00a0vivo catabolism","volume":"270","author":"Schmidt","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jacl.2015.09.001_bib30","doi-asserted-by":"crossref","first-page":"10895","DOI":"10.1021\/bi020315m","article-title":"Comparative models for human apolipoprotein A-I bound to lipid in discoidal high-density lipoprotein particles","volume":"41","author":"Klon","year":"2002","journal-title":"Biochemistry"},{"key":"10.1016\/j.jacl.2015.09.001_bib31","doi-asserted-by":"crossref","first-page":"6766","DOI":"10.1021\/bi4007012","article-title":"Conservation of apolipoprotein A-I's central domain structural elements upon lipid association on different high-density lipoprotein subclasses","volume":"52","author":"Oda","year":"2013","journal-title":"Biochemistry"},{"key":"10.1016\/j.jacl.2015.09.001_bib32","first-page":"403","article-title":"HDLs, diabetes and metabolic syndrome","volume":"224","author":"Vollenweider","year":"2015"},{"key":"10.1016\/j.jacl.2015.09.001_bib33","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1194\/jlr.M400141-JLR200","article-title":"Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia","volume":"45","author":"Lilja","year":"2004","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jacl.2015.09.001_bib34","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/jmg.22.1.54","article-title":"\u03b2+-thalassemia in the Po river delta region (northern Italy): genotype and \u03b2 globin synthesis","volume":"22","author":"Del Senno","year":"1985","journal-title":"J Med Genet"},{"key":"10.1016\/j.jacl.2015.09.001_bib35","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/0021-9150(89)90182-2","article-title":"Plasma lipids in beta-thalassemia minor","volume":"75","author":"Maioli","year":"1989","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib36","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0021-9150(97)06095-4","article-title":"Plasma lipoprotein composition, apolipoprotein(a) concentration and isoform in \u03b2-thalassemia","volume":"131","author":"Maioli","year":"1997","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2015.09.001_bib37","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ajh.20206","article-title":"Plasma kinetics of a cholesterol-rich microemulsion in subjects with heterozygous beta-thalassemia","volume":"77","author":"Naoum","year":"2004","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jacl.2015.09.001_bib38","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1055\/s-2004-861495","article-title":"Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia","volume":"4","author":"Calandra","year":"2004","journal-title":"Semin Vasc Med"},{"key":"10.1016\/j.jacl.2015.09.001_bib39","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1111\/j.1538-7836.2011.04253.x","article-title":"Thalassemia trait and arterial thromboembolic events: a systematic review and meta-analysis of the literature","volume":"9","author":"Dentali","year":"2011","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jacl.2015.09.001_bib40","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.jacl.2014.12.001","article-title":"Dose-response effects of marine omega-3 fatty acids on apolipoproteins, apolipoprotein-defined lipoprotein subclasses, and Lp-PLA2 in individuals with moderate hypertriglyceridemia","volume":"9","author":"Skulas-Ray","year":"2015","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2015.09.001_bib41","first-page":"2129","article-title":"Update on the management of severe hypertriglyceridemia\u2014focus on free fatty acid forms of omega-3","volume":"9","author":"Pirillo","year":"2015","journal-title":"Drug Des Devel Ther"},{"key":"10.1016\/j.jacl.2015.09.001_bib42","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.plipres.2014.07.002","article-title":"Recent advance in pharmacotherapy for hypertriglyceridemia","volume":"56","author":"Sahebkar","year":"2014","journal-title":"Prog Lipid Res"},{"key":"10.1016\/j.jacl.2015.09.001_bib43","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.1056\/NEJMoa1400284","article-title":"Targeting APOC3 in the familial chylomicronemia syndrome","volume":"371","author":"Gaudet","year":"2014","journal-title":"N Engl J Med"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287415003797?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287415003797?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T05:20:25Z","timestamp":1537334425000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287415003797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11]]},"references-count":43,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["S1933287415003797"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2015.09.001","relation":{},"ISSN":["1933-2874"],"issn-type":[{"type":"print","value":"1933-2874"}],"subject":[],"published":{"date-parts":[[2015,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2015.09.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 National Lipid Association. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}