{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T03:17:59Z","timestamp":1778815079424,"version":"3.51.4"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,5,6]],"date-time":"2008-05-06T00:00:00Z","timestamp":1210032000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Introduction<\/jats:title>\n            <jats:p>Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1752-1947-2-146","type":"journal-article","created":{"date-parts":[[2008,5,6]],"date-time":"2008-05-06T19:21:47Z","timestamp":1210101707000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature"],"prefix":"10.1186","volume":"2","author":[{"given":"Gladys","family":"Cossio de Gurrola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Jos\u00e9","family":"Ara\u00faz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elfilda","family":"Dur\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maribel","family":"Aguilar-Medina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosal\u00edo","family":"Ramos-Pay\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noem\u00ed","family":"Garc\u00eda-Magallanes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerardo Vaca","family":"Pacheco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliakym","family":"Ar\u00e1mbula Meraz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,5,6]]},"reference":[{"key":"333_CR1","doi-asserted-by":"crossref","first-page":"3613","DOI":"10.1182\/blood.V84.11.3613.bloodjournal84113613","volume":"84","author":"E Beutler","year":"1994","unstructured":"Beutler E: G6PD deficiency. Blood. 1994, 84: 3613-3636.","journal-title":"Blood"},{"key":"333_CR2","first-page":"4517","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"L Luzzatto","year":"2001","unstructured":"Luzzatto L, Mehta A, Vulliamy T: Glucose-6-phosphate dehydrogenase deficiency. The Metabolic and Molecular Basis of Inherited Disease. Edited by: Scriver ChR, Beaudet AL, Sly WS, Valle D. 2001, New York: McGraw Hill, 4517-4553. 8","edition":"8"},{"key":"333_CR3","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/ajh.2830420111","volume":"42","author":"E Beutler","year":"1993","unstructured":"Beutler E: Study of glucose-6-phosphate dehydrogenase: history and molecular biology. Am J Hematol. 1993, 42: 53-58. 10.1002\/ajh.2830420111.","journal-title":"Am J Hematol"},{"key":"333_CR4","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1542\/peds.104.1.68","volume":"104","author":"M Kaplan","year":"1999","unstructured":"Kaplan M, Beutler E, Ureman HJ, Hammerman C, Levi-Lahad E, Renbaum P, Stevenson DK: Neonatal hiperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes. Pediatrics. 1999, 104: 68-74. 10.1542\/peds.104.1.68.","journal-title":"Pediatrics"},{"key":"333_CR5","first-page":"1303","volume":"91","author":"L Luzzatto","year":"2006","unstructured":"Luzzatto L: Glucose-6-phosphate dehydrogenase deficiency: from genotype to phenotype. Haematologica. 2006, 91: 1303-1306.","journal-title":"Haematologica"},{"key":"333_CR6","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/S1079-9796(03)00119-0","volume":"31","author":"G Vaca","year":"2003","unstructured":"Vaca G, Arambula E, Monsalvo A, Medina C, Nunez C, Sandoval L, Lopez-Guido B: Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants. Blood Cells Mol Dis. 2003, 31: 112-120. 10.1016\/S1079-9796(03)00119-0.","journal-title":"Blood Cells Mol Dis"},{"key":"333_CR7","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16: 1215-10.1093\/nar\/16.3.1215.","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-2-146.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1752-1947-2-146\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-2-146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-2-146.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T11:03:41Z","timestamp":1630494221000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/1752-1947-2-146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,6]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["333"],"URL":"https:\/\/doi.org\/10.1186\/1752-1947-2-146","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,6]]},"assertion":[{"value":"7 November 2007","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2008","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2008","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"146"}}