{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T05:14:11Z","timestamp":1777958051477,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T00:00:00Z","timestamp":1777852800000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Cystic fibrosis (CF) newborn screening combines immunoreactive trypsin testing and targeted CFTR mutation panels. However, in Europe, most standard panels are designed primarily for common variants in Caucasian populations. We report a newborn, born in Spain from immigrant parents, with positive CF screening but initially normal genetic testing and borderline sweat chloride values. Full CFTR sequencing ultimately revealed a homozygous pathogenic variant (p.H609R), previously described in individuals of Ecuadorian\u2010Andean ancestry. This case highlights the importance of clinical vigilance and comprehensive genetic analysis in increasingly diverse populations.<\/jats:p>","DOI":"10.1002\/ccr3.72648","type":"journal-article","created":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T04:45:32Z","timestamp":1777956332000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["When Standard Newborn Screening Isn't Enough: Diagnostic Challenges in the Age of Globalization"],"prefix":"10.1002","volume":"14","author":[{"given":"Marina","family":"Ort\u00fazar Men\u00e9ndez","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hospital Universitario de Navarra  Pamplona Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie Mariel","family":"Mendiguren","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario de Navarra  Pamplona Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Carmen","family":"Garde Garde","sequence":"additional","affiliation":[{"name":"Instituto de Salud P\u00fablica y Laboral de Navarra. Secci\u00f3n de Detecci\u00f3n Precoz  Pamplona Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"P\u00e9rez Ollo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario de Navarra  Pamplona Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Campion Mezquiriz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario de Navarra  Pamplona Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0293-0749","authenticated-orcid":false,"given":"Laura","family":"Moreno\u2010Galarraga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario de Navarra  Pamplona Espa\u00f1a"},{"name":"Facultad de Ciencias de la Salud Universidad P\u00fablica de Navarra UPNA  Pamplona Espa\u00f1a"},{"name":"IdiSNA, Instituto de Investigaci\u00f3n Sanitaria de Navarra  Pamplona Espa\u00f1a"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.71222"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns11020024"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2009.06.020"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.02.015"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.337"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2009.05.001"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72648","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.72648","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T04:45:41Z","timestamp":1777956341000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.72648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ccr3.72648"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.72648","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"2026-02-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e72648"}}