{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:25:12Z","timestamp":1784543112778,"version":"3.55.0"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T00:00:00Z","timestamp":1606521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007380","name":"Funda\u00e7\u00e3o Instituto de Pesquisas Econ\u00f4micas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007380","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003810","name":"Hospital de Cl\u00ednicas de Porto Alegre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003810","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.ymgmr.2020.100693","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T03:18:11Z","timestamp":1607656691000},"page":"100693","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Cardiovascular findings in classic homocystinuria"],"prefix":"10.1016","volume":"25","author":[{"given":"Marco Ant\u00f4nio Baptista","family":"Kalil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina Carvalho","family":"Donis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiano de Oliveira","family":"Poswar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruna Bento","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c2ngela Barreto Santiago","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa Doederlein","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ymgmr.2020.100693_bb0005","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s10545-016-9979-0","article-title":"Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency","volume":"40","author":"Morris","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.ymgmr.2020.100693_bb0010","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1214","article-title":"Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases","volume":"8","author":"Weber Hoss","year":"2020","journal-title":"Mol Genet Genomic Med."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0015","first-page":"1","article-title":"The natural history of homocystinuria due to cystathionine beta-synthase deficiency","volume":"37","author":"Mudd","year":"1985","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0020","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s10545-010-9146-y","article-title":"Vascular presentation of cystathionine beta-synthase deficiency in adulthood","volume":"34","author":"Magner","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0025","series-title":"Disorders of Transulfuration in Scriver C. R., Editor; Beaudet a. L., Editor;, sly W. S., Editor; & Valle D., Editor. (Eds.), the Metabolic and Molecular Bases of Inherited Disease","first-page":"2007","author":"Mudd","year":"2001"},{"issue":"11","key":"10.1016\/j.ymgmr.2020.100693_bb0030","doi-asserted-by":"crossref","first-page":"3810","DOI":"10.1096\/fj.201600539","article-title":"N-Homocysteinylation impairs collagen cross-linking in cystathionine \u03b2-synthase-deficient mice: a novel mechanism of connective tissue abnormalities","volume":"30","author":"Per\u0142a-Kajan","year":"2016","journal-title":"FASEB J."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0035","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/nrcardio.2009.191","article-title":"Cellular and molecular mechanisms of thoracic aortic aneurysms","volume":"6","author":"El-Hamamsy","year":"2009","journal-title":"Nat. Rev. Cardiol."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0040","doi-asserted-by":"crossref","first-page":"8542158","DOI":"10.1155\/2016\/8542158","article-title":"Cooccurrence of postural orthostatic tachycardia syndrome with two different clinical entities","volume":"2016","author":"Oztunc","year":"2016","journal-title":"Case Reports in Pediatrics."},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100693_bb0045","doi-asserted-by":"crossref","first-page":"214","DOI":"10.4103\/apc.APC_174_17","article-title":"Homocystinuria presenting as a calcified right atrial mass","volume":"11","author":"Shera","year":"2018","journal-title":"Annals of Pediatric Cardiology."},{"issue":"1","key":"10.1016\/j.ymgmr.2020.100693_bb0050","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10545-017-0094-7","article-title":"Isolated aortic root dilation in homocystinuria","volume":"41","author":"Lorenzini","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0055","first-page":"e127","article-title":"A report of the American College of Cardiology\/American Heart Association task force on clinical practice guidelines","volume":"71","author":"Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"issue":"8","key":"10.1016\/j.ymgmr.2020.100693_bb0060","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/j.amjcard.2012.05.063","article-title":"Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons \u226515 years of age","volume":"110","author":"Devereux","year":"2012","journal-title":"Am J Cardiol."},{"issue":"6","key":"10.1016\/j.ymgmr.2020.100693_bb0065","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.amjcard.2009.11.040","article-title":"Nomograms for aortic root diameters in children using two-dimensional echocardiography","volume":"105","author":"Gautier","year":"2010","journal-title":"Am. J. Cardiol."},{"issue":"4","key":"10.1016\/j.ymgmr.2020.100693_bb0070","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.echo.2017.01.007","article-title":"Recommendations for Noninvasive Evaluation of Native Valvular Regurgitation: A Report from the American Society of Echocardiography Developed in Collaboration with the Society for Cardiovascular Magnetic Resonance","volume":"30","author":"Zoghbi","year":"2017","journal-title":"J Am Soc Echocardiogr"},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100693_bb0075","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.ijcard.2007.12.029","article-title":"Vascular and connective tissue features in 5 Italian patients with homocystinuria","volume":"134","author":"Evangelisti","year":"2009","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ymgmr.2020.100693_bb0080","first-page":"47","article-title":"Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization","volume":"14","author":"Voskoboeva","year":"2017","journal-title":"Mol Genet Metab Rep"},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100693_bb0085","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1093\/eurheartj\/ehs291","article-title":"Right bundle branch block: prevalence, risk factors, and outcome in the general population: results from the Copenhagen City Heart Study","volume":"34","author":"Bussink","year":"2013","journal-title":"European Heart Journal"},{"key":"10.1016\/j.ymgmr.2020.100693_bb0090","unstructured":"Left bundle branch block: Epidemiology, etiology, anatomic features, electrovectorcardiography, and classification proposal."},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100693_bb0095","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/mgg3.342","article-title":"CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients","volume":"6","author":"Poloni","year":"2018","journal-title":"Mol Genet Genomic Med"}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920301397?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920301397?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:52:58Z","timestamp":1762001578000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426920301397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":19,"alternative-id":["S2214426920301397"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100693","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cardiovascular findings in classic homocystinuria","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100693","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100693"}}