{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T01:07:34Z","timestamp":1793236054237,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":599,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1016\/j.ajhg.2011.11.028","type":"journal-article","created":{"date-parts":[[2012,1,5]],"date-time":"2012-01-05T23:35:11Z","timestamp":1325806511000},"page":"49-60","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":98,"title":["Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1"],"prefix":"10.1016","volume":"90","author":[{"given":"Lina","family":"Basel-Vanagaite","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noam","family":"Zevit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi\u00a0Har","family":"Zahav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saj","family":"Parathath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metsada","family":"Pasmanik-Chor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam\u00a0D.","family":"McIntyre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi","family":"Albin-Kaplanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corina","family":"Hartman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphna","family":"Marom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avraham","family":"Zeharia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abir","family":"Badir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oded","family":"Shoerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amos\u00a0J.","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gideon","family":"Rechavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mordechai","family":"Shohat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert\u00a0A.","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward\u00a0A.","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raanan","family":"Shamir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.11.028_bib1","series-title":"Pediatric Endocrinology","first-page":"279","article-title":"Lipid disorders in children and adolescents","author":"Cohen","year":"2007"},{"key":"10.1016\/j.ajhg.2011.11.028_bib2","doi-asserted-by":"crossref","first-page":"1997","DOI":"10.1194\/jlr.R200015-JLR200","article-title":"Lipoprotein lipase: Genetics, lipid uptake, and regulation","volume":"43","author":"Merkel","year":"2002","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib3","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1503\/cmaj.060963","article-title":"Hypertriglyceridemia: Its etiology, effects and treatment","volume":"176","author":"Yuan","year":"2007","journal-title":"CMAJ"},{"key":"10.1016\/j.ajhg.2011.11.028_bib4","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1542\/peds.2004-1877","article-title":"Effect of obesity and high blood pressure on plasma lipid levels in children and adolescents","volume":"116","author":"Boyd","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2011.11.028_bib5","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1038\/oby.2005.111","article-title":"Obesity in Spanish schoolchildren: Relationship with lipid profile and insulin resistance","volume":"13","author":"Garc\u00e9s","year":"2005","journal-title":"Obes. Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib6","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.diabres.2005.03.032","article-title":"Prevalence and control of dyslipidemia among persons with diabetes in the United States","volume":"70","author":"Jacobs","year":"2005","journal-title":"Diabetes Res. Clin. Pract."},{"key":"10.1016\/j.ajhg.2011.11.028_bib7","first-page":"205","article-title":"Association between obesity and hyperlipidemia among children","volume":"74","author":"Lai","year":"2001","journal-title":"Yale J. Biol. Med."},{"key":"10.1016\/j.ajhg.2011.11.028_bib8","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.numecd.2004.06.003","article-title":"Cardiovascular risk factors in overweight German children and adolescents: Relation to gender, age and\u00a0degree of overweight","volume":"15","author":"Reinehr","year":"2005","journal-title":"Nutr. Metab. Cardiovasc. Dis."},{"key":"10.1016\/j.ajhg.2011.11.028_bib9","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1515\/JPEM.2005.18.11.1063","article-title":"Clinical and metabolic characteristics of an obese, Dominican, pediatric population","volume":"18","author":"Sherry","year":"2005","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2011.11.028_bib10","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/nrg2481","article-title":"Plasma lipoproteins: Genetic influences and clinical implications","volume":"10","author":"Hegele","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2011.11.028_bib11","doi-asserted-by":"crossref","first-page":"e13919","DOI":"10.1371\/journal.pone.0013919","article-title":"Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans","volume":"5","author":"Bishop","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2011.11.028_bib12","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0140-6736(92)93147-F","article-title":"Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis","volume":"340","author":"Celermajer","year":"1992","journal-title":"Lancet"},{"key":"10.1016\/j.ajhg.2011.11.028_bib13","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1161\/01.ATV.16.8.984","article-title":"Risk factors related to carotid intima-media thickness and plaque in children with familial hypercholesterolemia and control subjects","volume":"16","author":"Tonstad","year":"1996","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"Suppl A","key":"10.1016\/j.ajhg.2011.11.028_bib14","first-page":"A2","article-title":"The M\u00fcnster Heart Study (PROCAM). Results of follow-up at 8 years","volume":"19","author":"Assmann","year":"1998","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ajhg.2011.11.028_bib15","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJM199304293281702","article-title":"Plasma triglyceride level and mortality from coronary heart disease","volume":"328","author":"Criqui","year":"1993","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2011.11.028_bib16","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/S0002-9149(00)01127-9","article-title":"Evidence that triglycerides are an independent coronary heart disease risk factor","volume":"86","author":"Cullen","year":"2000","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ajhg.2011.11.028_bib17","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1097\/00043798-199604000-00014","article-title":"Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: A meta-analysis of population-based prospective studies","volume":"3","author":"Hokanson","year":"1996","journal-title":"J. Cardiovasc. Risk"},{"key":"10.1016\/j.ajhg.2011.11.028_bib18","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.jacc.2004.11.062","article-title":"Plasma triglycerides and type III hyperlipidemia are independently associated with premature familial coronary artery disease","volume":"45","author":"Hopkins","year":"2005","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ajhg.2011.11.028_bib19","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1097\/00004836-200204000-00020","article-title":"Long-term follow-up of patients with acute hypertriglyceridemia-induced pancreatitis","volume":"34","author":"Athyros","year":"2002","journal-title":"J. Clin. Gastroenterol."},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2011.11.028_bib20","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper \u2013 an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib21","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/ng.628","article-title":"Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia","volume":"42","author":"Johansen","year":"2010","journal-title":"Nat. Genet."},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2011.11.028_bib22","doi-asserted-by":"crossref","first-page":"W280","DOI":"10.1093\/nar\/gkh355","article-title":"ECR Browser: A tool for visualizing and accessing data from comparisons of multiple vertebrate genomes","volume":"32","author":"Ovcharenko","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib23","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/nar\/29.1.221","article-title":"PDBsum: Summaries and analyses of PDB structures","volume":"29","author":"Laskowski","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib24","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.jmb.2005.12.074","article-title":"Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1)","volume":"357","author":"Ou","year":"2006","journal-title":"J. Mol. Biol."},{"issue":"Database Issue","key":"10.1016\/j.ajhg.2011.11.028_bib25","doi-asserted-by":"crossref","first-page":"D211","DOI":"10.1093\/nar\/gkp985","article-title":"The Pfam protein families database","volume":"38","author":"Finn","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"Database Issue","key":"10.1016\/j.ajhg.2011.11.028_bib26","doi-asserted-by":"crossref","first-page":"D211","DOI":"10.1093\/nar\/gkn785","article-title":"InterPro: The integrative protein signature database","volume":"37","author":"Hunter","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib27","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1007\/978-3-540-69828-9_12","article-title":"Bgee: Integrating and comparing heterogeneous transcriptome data among species","volume":"5109","author":"Bastian","year":"2008","journal-title":"Lect. Notes Comput. Sci."},{"key":"10.1016\/j.ajhg.2011.11.028_bib28","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/0167-4781(95)00069-S","article-title":"Molecular cloning, sequencing and expression of a cDNA encoding a human liver NAD-dependent alpha-glycerol-3-phosphate dehydrogenase","volume":"1262","author":"Menaya","year":"1995","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2011.11.028_bib29","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1007\/s11033-010-0305-x","article-title":"Molecular characteristics and expression profiles of glycerol-3-phosphate dehydrogenase 1 (GPD1) gene in pig","volume":"38","author":"Gao","year":"2011","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.ajhg.2011.11.028_bib30","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1042\/bj2040247","article-title":"Role of glycerol 3-phosphate and glycerophosphate acyltransferase in the nutritional control of hepatic triacylglycerol synthesis","volume":"204","author":"Declercq","year":"1982","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2011.11.028_bib31","doi-asserted-by":"crossref","first-page":"5533","DOI":"10.1073\/pnas.95.10.5533","article-title":"Evidence of high levels of methylglyoxal in cultured Chinese hamster ovary cells","volume":"95","author":"Chaplen","year":"1998","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.11.028_bib32","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1440-1797.2007.00809.x","article-title":"Methylglyoxal-induced fibronectin gene expression through Ras-mediated NADPH oxidase activation in renal mesangial cells","volume":"12","author":"Ho","year":"2007","journal-title":"Nephrology (Carlton)"},{"key":"10.1016\/j.ajhg.2011.11.028_bib33","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1194\/jlr.M200051-JLR200","article-title":"Distinct ontogenic patterns of overt and latent DGAT activities of rat liver microsomes","volume":"43","author":"Waterman","year":"2002","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib34","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/S0022-2275(20)41278-7","article-title":"Hepatic lipid metabolism. Age-related changes in triglyceride metabolism","volume":"19","author":"Jamdar","year":"1978","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ajhg.2011.11.028_bib35","first-page":"4135","article-title":"GPD1, which encodes glycerol-3-phosphate dehydrogenase, is essential for growth under osmotic stress in Saccharomyces cerevisiae, and its expression is regulated by the high-osmolarity glycerol response pathway","volume":"14","author":"Albertyn","year":"1994","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.11.028_bib36","doi-asserted-by":"crossref","first-page":"4679","DOI":"10.1016\/S0021-9258(18)83796-6","article-title":"A glycerol-3-phosphate dehydrogenase null mutant in BALB\/cHeA mice","volume":"264","author":"Prochazka","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.11.028_bib37","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1023\/A:1027332523114","article-title":"Enhanced glycerol 3-phosphate dehydrogenase activity in adipose tissue of obese humans","volume":"254","author":"Swierczynski","year":"2003","journal-title":"Mol. Cell. Biochem."},{"key":"10.1016\/j.ajhg.2011.11.028_bib38","doi-asserted-by":"crossref","first-page":"30413","DOI":"10.1074\/jbc.R300017200","article-title":"Glyceroneogenesis and the triglyceride\/fatty acid cycle","volume":"278","author":"Reshef","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.11.028_bib39","series-title":"Sleisenger and Fordtran's Gastrointestinal and Liver Disease","first-page":"1401","article-title":"Non alcoholic fatty liver disease","author":"Reid","year":"2010"},{"key":"10.1016\/j.ajhg.2011.11.028_bib40","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1002\/hep.21710","article-title":"Mitochondrial hepatopathies: advances in genetics and pathogenesis","volume":"45","author":"Lee","year":"2007","journal-title":"Hepatology"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711005295?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711005295?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:11:26Z","timestamp":1757574686000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711005295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["S0002929711005295"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.028","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.028","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}