{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T11:10:39Z","timestamp":1694862639344},"reference-count":5,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T00:00:00Z","timestamp":1224028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Two neonates were identified at age 48 h by expanded newborn screening, with abnormal methionine and tyrosine concentrations, which were confirmed on repeat samples. Evidence of previously unsuspected liver disease was found at recall, and there was radiological and biochemical evidence of severe liver disease with hepatic synthetic failure. After inborn errors of metabolism (IEMs) were excluded, both were considered to have neonatal haemochromatosis, on the basis of raised ferritin, iron saturation, and very high \u03b1\u2010fetoprotein and confirmed by a mildly hyperferritinaemic sibling in the first case, and raised ferritin and iron saturation in the second. However, it was not feasible to obtain tissue confirmation as the requirement for early therapy precluded biopsy. The babies were treated with antioxidants and iron\u2010chelating agents, and the coagulopathy and hypoalbuminaemia were corrected. Both made a complete recovery and remain well after follow\u2010up. Newborn screening programmes could consider advising clinicians, when tyrosine and methionine values are elevated, that once IEMs are excluded liver disease from other causes must be sought. Neonatal haemochromatosis is an example of one such disease that is potentially treatable.<\/jats:p>","DOI":"10.1007\/s10545-008-0842-9","type":"journal-article","created":{"date-parts":[[2008,10,14]],"date-time":"2008-10-14T05:52:27Z","timestamp":1223963547000},"page":"271-273","source":"Crossref","is-referenced-by-count":1,"title":["Detection of treatable neonatal liver disease by expanded newborn screening"],"prefix":"10.1002","volume":"31","author":[{"given":"R. J.","family":"Mackay","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Women's and Children's Hospital Adelaide South Australia"},{"name":"Clinical Biochemistry Unit Canterbury Health Laboratories PO Box 151 Christchurch 8011 New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Bratkovic","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Women's and Children's Hospital Adelaide South Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Couper","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Women's and Children's Hospital Adelaide South Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. P.","family":"Davidson","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Women's and Children's Hospital Adelaide South Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Fahy","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Alice Springs Hospital Northern Territory Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Women's and Children's Hospital Adelaide South Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Ranieri","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Women's and Children's Hospital Adelaide South Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.88.2.F124"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-55878-8_2"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)90020-9"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.21129"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17356-X"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0842-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-0842-9","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0842-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:22:00Z","timestamp":1694751720000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0842-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,15]]},"references-count":5,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0842-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0842-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,15]]}}}