{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:02:09Z","timestamp":1761058929933},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,5,6]],"date-time":"2009-05-06T00:00:00Z","timestamp":1241568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glucose\u20106\u2010phosphate dehydrogenase (G6PD), a X\u2010linked hereditary deficiency, is one of most common clinically significant enzyme defects. Despite its largely known role in acute and life\u2010threatening haemolytic crises, G6PD deficiency may be also associated with neonatal jaundice that, when severe and untreated, may lead to the potential of bilirubin encephalopathy. A prolonged neonatal jaundice was found to be associated with a rare <jats:italic>G6PD<\/jats:italic> mutation (<jats:italic>c.383T&gt;G<\/jats:italic>; p.L128R), the latter simply annotated in literature database. In this article, we clinically and phenotipically describe a case of an Italian neonate carrying the <jats:italic>c.383T&gt;G G6PD<\/jats:italic> mutation. Finally, we named this variant \u201cG6PD Salerno.\u201d Pediatr Blood Cancer 2009;53:475\u2013478. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22046","type":"journal-article","created":{"date-parts":[[2009,5,6]],"date-time":"2009-05-06T16:26:14Z","timestamp":1241627174000},"page":"475-478","source":"Crossref","is-referenced-by-count":7,"title":["A prolonged neonatal jaundice associated with a rare G6PD mutation"],"prefix":"10.1002","volume":"53","author":[{"given":"Angelo","family":"Minucci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Concolino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"De Luca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Giardina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Zuppi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ettore","family":"Capoluongo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,6]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"440","article-title":"Molecular heterogeneity of glucose\u20106\u2010phosphate dehydrogenase (G6PD) variants in Italy","volume":"82","author":"Martinez di Montemuros F","year":"1997","journal-title":"Haematologica"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.1512967.x"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.03.025"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.11.009"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/iub.137"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)30098-8"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.102.3.e37"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.114.1.297"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/14767050801924811"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1979.tb03774.x"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/jssc.200800216"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj2710157"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199511023331802"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.22.12128"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7211152"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.45.520.86"},{"key":"e_1_2_5_18_2","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1542\/peds.90.3.401","article-title":"Neonatal hyperbilirubinemia associated with glucose\u20106\u2010phosphate dehydrogenase deficiency in Sephardic\u2010Jewish neonates: Incidence, severity and the effect of phototherapy","volume":"90","author":"Kaplan M","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V84.11.3613.bloodjournal84113613"},{"key":"e_1_2_5_20_2","first-page":"811","article-title":"Hyperbilirubinemia in Inuit neonates","volume":"126","author":"Postl BD","year":"1982","journal-title":"Can Med Assoc J"},{"key":"e_1_2_5_21_2","first-page":"294","article-title":"Multiple glucose 6\u2010phosphate dehydrogenase\u2010deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)","volume":"56","author":"Ganczakowski M","year":"1995","journal-title":"Am J Hum Genet"}],"container-title":["Pediatric Blood &amp; 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