{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:12:52Z","timestamp":1790233972138,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T00:00:00Z","timestamp":1439942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Respiratory distress syndrome (RDS) may occur in term and near\u2010term infants because of mutations in surfactant\u2010related genes. ATP\u2010binding cassette A3 (ABCA3), a phospholipid carrier specifically expressed in the alveolar epithelium, is the most frequently involved protein. We report the case of a couple of late\u2010preterm fraternal twin infants of opposite sex carrying the same compound heterozygous <jats:italic>ABCA3<\/jats:italic> mutations, one of which has never been previously reported, with different disease severity, suggesting variable penetrance or sex\u2010related differences. ABCA3 deficiency should be considered in term or near\u2010term babies who develop unexplained RDS.<\/jats:p>","DOI":"10.1111\/ped.12673","type":"journal-article","created":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T12:22:41Z","timestamp":1439986961000},"page":"970-974","source":"Crossref","is-referenced-by-count":9,"title":["New <i>ATP\u2010binding cassette A3<\/i> mutation causing surfactant metabolism dysfunction pulmonary type 3"],"prefix":"10.1111","volume":"57","author":[{"given":"Fiammetta","family":"Piersigilli","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Neonatology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Peca","sequence":"additional","affiliation":[{"name":"Research Core Laboratory"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Campi","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Neonatology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirta","family":"Corsello","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Neonatology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Landolfo","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Neonatology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Boldrini","sequence":"additional","affiliation":[{"name":"Electron Microscopy, Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Danhaive","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Neonatology"},{"name":"Division of Neonatology University of California San Francisco  San Francisco USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Dotta","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Neonatology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(199701)23:1<55::AID-PPUL7>3.0.CO;2-O"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000219311.14291.df"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-0918"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-13-67"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00184.2013"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1363687"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M600071200"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.08.133"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201402-0342OC"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2007.11.001"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12673","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12673","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12673","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T12:09:44Z","timestamp":1696162184000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12673"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,19]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1111\/ped.12673"],"URL":"https:\/\/doi.org\/10.1111\/ped.12673","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,19]]}}}