{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:26:22Z","timestamp":1791563182770,"version":"4.3.4"},"reference-count":7,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T00:00:00Z","timestamp":1464739200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T00:00:00Z","timestamp":1464739200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,3,29]],"date-time":"2016-03-29T00:00:00Z","timestamp":1459209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2016,6]]},"DOI":"10.1016\/j.ymgmr.2016.03.007","type":"journal-article","created":{"date-parts":[[2016,4,6]],"date-time":"2016-04-06T16:51:46Z","timestamp":1459961506000},"page":"40-44","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"special_numbering":"C","title":["Holocarboxylase synthetase deficiency pre and post newborn screening"],"prefix":"10.1016","volume":"7","author":[{"given":"Taraka R.","family":"Donti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick R.","family":"Blackburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paldeep S.","family":"Atwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2016.03.007_bb0005","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ymgme.2008.09.006","article-title":"Management of a patient with holocarboxylase synthetase deficiency","volume":"95","author":"Van Hove","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2016.03.007_bb0010","first-page":"570","article-title":"Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy Eur","volume":"157","author":"Suormala","year":"1998","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgmr.2016.03.007_bb0015","series-title":"GeneReviews\u00ae [Internet]","article-title":"Biotinidase deficiency","author":"B.","year":"1993"},{"key":"10.1016\/j.ymgmr.2016.03.007_bb0020","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1007\/BF01799165","article-title":"Late-onset holocarboxylase synthetase deficiency","volume":"19","author":"Gibson","year":"1996","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2016.03.007_bb0025","first-page":"174","article-title":"Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation","volume":"99","author":"Hwu","year":"2000","journal-title":"J. Formos. Med. Assoc."},{"key":"10.1016\/j.ymgmr.2016.03.007_bb0030","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.anpedi.2013.05.035","article-title":"Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity","volume":"80","author":"Vitoria","year":"2014","journal-title":"An. Pediatr. (Barc.)"},{"key":"10.1016\/j.ymgmr.2016.03.007_bb0035","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/ajmg.10532","article-title":"Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency","volume":"111","author":"Morrone","year":"2002","journal-title":"Am J Med Gen"}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426916300209?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426916300209?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:48:47Z","timestamp":1762001327000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426916300209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":7,"alternative-id":["S2214426916300209"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2016.03.007","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Holocarboxylase synthetase deficiency pre and post newborn screening","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2016.03.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}