{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:05:54Z","timestamp":1780632354299,"version":"3.54.1"},"reference-count":9,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatology"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>We report a novel glucose-6-phosphate dehydrogenase (&lt;i&gt;G6PD&lt;\/i&gt;) variant (c.1375C&amp;#x3e;G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29.8 mg\/dL or 510 \u03bcmol\/L) and marked hemolysis evidenced by elevated end-tidal carbon monoxide concentration (5.9 ppm, normal &amp;#x3c;1.7 ppm). Despite a very low prevalence of G6PD deficiency in Hispanic populations, we pursued testing for this condition and found he had low erythrocyte G6PD enzyme activity (2.8 U\/g Hb, normal 9.9\u201316.6 U\/g Hb) and a novel &lt;i&gt;G6PD&lt;\/i&gt; variant. His mother was heterozygous for this same variant, and she had a moderate decrease in G6PD enzyme activity (7.1 U\/g Hb). On the basis of these findings, we propose this variant as a novel pathogenic mutation. <\/jats:p>","DOI":"10.1159\/000510300","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T21:01:12Z","timestamp":1601326872000},"page":"532-535","source":"Crossref","is-referenced-by-count":7,"title":["A Novel Variant in &lt;b&gt;&lt;i&gt;G6PD&lt;\/i&gt;&lt;\/b&gt; (c.1375C&amp;#x3e;G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity"],"prefix":"10.1159","volume":"117","author":[{"given":"Timothy M.","family":"Bahr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9204-702X","authenticated-orcid":false,"given":"Michell","family":"Lozano-Chinga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana M.","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica A.","family":"Meznarich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian C.","family":"Yost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5661","authenticated-orcid":false,"given":"N. Scott","family":"Reading","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8019-2940","authenticated-orcid":false,"given":"Josef T.","family":"Prchal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D.","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2020,9,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.10.004"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2008.12.005"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2013.14"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000087234"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2008.211"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1590\/0074-0276140123"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3233\/npm-1831"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-17667-6"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000489820"}],"container-title":["Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/510300","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/510300","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:54:56Z","timestamp":1745423696000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000510300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,12,2]]},"published-print":{"date-parts":[[2020,12,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000510300","archive":["Portico"],"relation":{},"ISSN":["1661-7800","1661-7819"],"issn-type":[{"value":"1661-7800","type":"print"},{"value":"1661-7819","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}