{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T10:06:01Z","timestamp":1779185161343,"version":"3.51.4"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biochem Genet"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1007\/s10528-025-11209-w","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T07:27:15Z","timestamp":1754551635000},"page":"3742-3754","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants"],"prefix":"10.1007","volume":"64","author":[{"given":"Ozlem","family":"Anlas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Derya","family":"Bulut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"issue":"14","key":"11209_CR1","doi-asserted-by":"publisher","first-page":"1732","DOI":"10.1016\/j.jacc.2017.08.009","volume":"70","author":"A Amor-Salamanca","year":"2017","unstructured":"Amor-Salamanca A, Castillo S, Gonzalez-Vioque E, Dominguez F, Quintana F, Llu\u00eds-Ganella C et al (2017) Genetically confirmed familial hypercholesterolemia in patients with acute coronary syndrome. J Am Coll Cardiol 70(14):1732\u20131740. https:\/\/doi.org\/10.1016\/j.jacc.2017.08.009","journal-title":"J Am Coll Cardiol"},{"issue":"1","key":"11209_CR2","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.ajhg.2011.11.028","volume":"90","author":"L Basel-Vanagaite","year":"2012","unstructured":"Basel-Vanagaite L, Zevit N, Zahav AH, Guo L, Parathath S, Pasmanik-Chor M et al (2012) Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase. Am J Hum Genet 90(1):49\u201360. https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.028","journal-title":"Am J Hum Genet"},{"issue":"6","key":"11209_CR3","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1161\/ATVBAHA.109.186577","volume":"29","author":"LP Beigneux","year":"2009","unstructured":"Beigneux LP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J et al (2009) Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. Arterioscler Thromb Vasc Biol 29(6):956\u2013962. https:\/\/doi.org\/10.1161\/ATVBAHA.109.186577","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"8","key":"11209_CR4","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/s11883-021-00939-y","volume":"23","author":"GD Carrasquilla","year":"2021","unstructured":"Carrasquilla GD, Christiansen MR, Kilpel\u00e4inen TO (2021) The genetic basis of hypertriglyceridemia. Curr Atheroscler Rep 23(8):39. https:\/\/doi.org\/10.1007\/s11883-021-00939-y","journal-title":"Curr Atheroscler Rep"},{"issue":"3","key":"11209_CR5","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/humu.9054","volume":"20","author":"LYS Chan","year":"2002","unstructured":"Chan LYS, Lam CW, Mak YT, Tomlinson B, Tsang MW, Baum L et al (2002) Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. Hum Mutat 20(3):232\u2013233. https:\/\/doi.org\/10.1002\/humu.9054","journal-title":"Hum Mutat"},{"issue":"8","key":"11209_CR6","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.3390\/medicina59081434","volume":"59","author":"AT Constantin","year":"2023","unstructured":"Constantin AT, Delia C, Tudor LM, Rosca I, Irimie AD, N\u0103stase L et al (2023) Dyslipidemia in pediatric patients: a cross-sectional study. Medicina (Kaunas) 59(8):1434. https:\/\/doi.org\/10.3390\/medicina59081434","journal-title":"Medicina (Kaunas)"},{"issue":"4","key":"11209_CR7","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1016\/j.jacl.2018.03.093","volume":"12","author":"RA Hegele","year":"2018","unstructured":"Hegele RA, Berberich AJ, Ban MR, Wang J, Digenio A, Alexander WJ et al (2018) Clinical and biochemical features of different molecular etiologies of familial chylomicronemia. J Clin Lipidol 12(4):920\u2013927.e4. https:\/\/doi.org\/10.1016\/j.jacl.2018.03.093","journal-title":"J Clin Lipidol"},{"key":"11209_CR8","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/s12944-015-0171-6","volume":"15","author":"J Jiang","year":"2016","unstructured":"Jiang J, Wang Y, Ling Y, Kayoumu A, Liu G, Gao X (2016) A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis. Lipids Health Dis 15:12. https:\/\/doi.org\/10.1186\/s12944-015-0171-6","journal-title":"Lipids Health Dis"},{"issue":"5","key":"11209_CR9","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/s12098-021-03663-2","volume":"88","author":"P Kumar","year":"2021","unstructured":"Kumar P, Sharma S (2021) Transient infantile hypertriglyceridemia and hepatic steatosis in an infant with GPD1 mutation. Indian J Pediatr 88(5):495\u2013496. https:\/\/doi.org\/10.1007\/s12098-021-03663-2","journal-title":"Indian J Pediatr"},{"key":"11209_CR10","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/s12944-016-0251-2","volume":"15","author":"I Lamiquiz-Moneo","year":"2016","unstructured":"Lamiquiz-Moneo I, Blanco-Torrecilla C, Bea AM, Mateo-Gallego R, Perez-Calahorra S, Baila-Rueda L, Cenarro A et al (2016) Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain. Lipids Health Dis 15:82. https:\/\/doi.org\/10.1186\/s12944-016-0251-2","journal-title":"Lipids Health Dis"},{"key":"11209_CR11","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.atherosclerosis.2021.02.020","volume":"322","author":"JG Lima","year":"2021","unstructured":"Lima JG, Nobrega LHC, Moura Bandeira FT, Pires Souza AG, Medeiros de Araujo Macedo TB, Calavcante Nogueira AC et al (2021) A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: a series of cases. Atherosclerosis 322:31\u201338. https:\/\/doi.org\/10.1016\/j.atherosclerosis.2021.02.020","journal-title":"Atherosclerosis"},{"key":"11209_CR100","doi-asserted-by":"publisher","unstructured":"Neyzi O, Bundak R, G\u00f6k\u00e7ay G, G\u00fcn\u00f6z H, Furman A, Darendeliler F, Ba\u015f F (2015) Reference values for weight, height, head circumference, and body mass index in Turkish children. J Clin Res Pediatr Endocrinol 7(4):280\u2013293. https:\/\/doi.org\/10.4274\/jcrpe.2183","DOI":"10.4274\/jcrpe.2183"},{"issue":"1","key":"11209_CR12","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.jacl.2022.10.005","volume":"17","author":"T Nozue","year":"2023","unstructured":"Nozue T, Tada H, Murakami M, Michishita I (2023) A case of hyperchylomicronemia associated with GPIHBP1 autoantibodies and fluctuating thyroid autoimmune disease. J Clin Lipidol 17(1):68\u201372. https:\/\/doi.org\/10.1016\/j.jacl.2022.10.005","journal-title":"J Clin Lipidol"},{"issue":"2","key":"11209_CR13","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.jacl.2018.01.003","volume":"12","author":"N Patni","year":"2018","unstructured":"Patni N, Li X, Adams-Huet B, Garg A (2018) The prevalence and etiology of extreme hypertriglyceridemia in children: data from a Tertiary Children\u2019s Hospital. J Clin Lipidol 12(2):305\u2013310. https:\/\/doi.org\/10.1016\/j.jacl.2018.01.003","journal-title":"J Clin Lipidol"},{"key":"11209_CR14","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.atherosclerosissup.2017.07.002","volume":"29","author":"A Pirillo","year":"2017","unstructured":"Pirillo A, Garlaschelli K, Arca M, Averna M, Bertolini S, Calandra S et al (2017) Spectrum of mutations in Italian patients with familial hypercholesterolemia: new results from the LIPIGEN study. Atheroscler Suppl 29:17\u201324. https:\/\/doi.org\/10.1016\/j.atherosclerosissup.2017.07.002","journal-title":"Atheroscler Suppl"},{"issue":"1","key":"11209_CR15","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.atherosclerosis.2015.04.815","volume":"241","author":"C Rabacchi","year":"2015","unstructured":"Rabacchi C, Pisciotta L, Cefal\u00f9 B, Noto D, Fresa R, Tarugi P et al (2015) Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia. Atherosclerosis 241(1):79\u201386. https:\/\/doi.org\/10.1016\/j.atherosclerosis.2015.04.815","journal-title":"Atherosclerosis"},{"key":"11209_CR16","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.cca.2015.10.033","volume":"454","author":"I Ramasamy","year":"2016","unstructured":"Ramasamy I (2016) Update on the molecular biology of dyslipidemias. Clin Chim Acta 454:143\u2013185. https:\/\/doi.org\/10.1016\/j.cca.2015.10.033","journal-title":"Clin Chim Acta"},{"issue":"1","key":"11209_CR17","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/S0022-2275(20)32333-6","volume":"42","author":"S Roosbeek","year":"2001","unstructured":"Roosbeek S, Vanloo B, Duverger N, Caster H, Breyne J, De Beun I et al (2001) Three arginine residues in apolipoprotein A-I are critical for activation of lecithin:cholesterol acyltransferase. J Lipid Res 42(1):31\u201340","journal-title":"J Lipid Res"},{"key":"11209_CR18","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.983283","volume":"13","author":"U Sustar","year":"2022","unstructured":"Sustar U, Groselj U, Kha SA, Shafi S, Khan I, Kovac J et al (2022) A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review. Front Genet 13:983283. https:\/\/doi.org\/10.3389\/fgene.2022.983283","journal-title":"Front Genet"},{"issue":"1","key":"11209_CR19","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1007\/s12098-020-03385-x","volume":"88","author":"M Tesarova","year":"2021","unstructured":"Tesarova M, Stranecky V, Konecna P (2021) GPD1 deficiency\u2014underdiagnosed cause of liver disease. Indian J Pediatr 88(1):80\u201381. https:\/\/doi.org\/10.1007\/s12098-020-03385-x","journal-title":"Indian J Pediatr"},{"issue":"5","key":"11209_CR20","doi-asserted-by":"publisher","first-page":"1454","DOI":"10.1210\/jc.2016-3903","volume":"102","author":"M Udea","year":"2017","unstructured":"Udea M, Dunbar RL, Wolska A (2017) A novel APOC2 missense mutation causing apolipoprotein C-II deficiency with severe triglyceridemia and pancreatitis. J Clin Endocrinol Metab 102(5):1454\u20131457. https:\/\/doi.org\/10.1210\/jc.2016-3903","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"11209_CR21","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1542\/pir.2016-0138","volume":"38","author":"B Valaiyapathi","year":"2017","unstructured":"Valaiyapathi B, Sunil B, Ashraf PA (2017) Approach to hypertriglyceridemia in the pediatric population. Pediatr Rev 38(9):424\u2013434","journal-title":"Pediatr Rev"}],"container-title":["Biochemical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10528-025-11209-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10528-025-11209-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10528-025-11209-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T09:08:12Z","timestamp":1779181692000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10528-025-11209-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,7]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["11209"],"URL":"https:\/\/doi.org\/10.1007\/s10528-025-11209-w","relation":{},"ISSN":["0006-2928","1573-4927"],"issn-type":[{"value":"0006-2928","type":"print"},{"value":"1573-4927","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,7]]},"assertion":[{"value":"28 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}},{"value":"This study was approved by the Adana City Training and Research Hospital Institutional Local Clinical Studies Ethics Committee (date: 8th September 2022, no: 2131). The study was conducted in accordance with the principles of the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"We obtained written informed consent from all patients before the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"There is no contains any individual person\u2019s data in any form in the manuscript.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publish"}}]}}