{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T01:06:23Z","timestamp":1772845583006,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,7]],"date-time":"2017-12-07T00:00:00Z","timestamp":1512604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene,\n                    <jats:italic>CYB5R3<\/jats:italic>\n                    , is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger\u2010scale genetic studies.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.1310","type":"journal-article","created":{"date-parts":[[2017,12,7]],"date-time":"2017-12-07T03:18:55Z","timestamp":1512616735000},"page":"170-178","source":"Crossref","is-referenced-by-count":6,"title":["Congenital methemoglobinemia type II in a 5\u2010year\u2010old boy"],"prefix":"10.1002","volume":"6","author":[{"given":"Elizabeth A.","family":"Mannino","sequence":"first","affiliation":[{"name":"Eastern Virginia Medical School Norfolk Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Pluim","sequence":"additional","affiliation":[{"name":"Division of Pediatric Critical Care Medicine Naval Medical Center Portsmouth Portsmouth Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Wessler","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology Naval Medical Center Portsmouth Portsmouth Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan T.","family":"Cho","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9194-0644","authenticated-orcid":false,"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia"},{"name":"Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1671"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1988.tb01105.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25791"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1002\/humu.20040","article-title":"Molecular and functional analysis of SUMF1 mutations in multiple s sulfatase deficiency","volume":"23","author":"Cosmo M. 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