{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:28:30Z","timestamp":1775309310904,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2008,7,28]]},"published-print":{"date-parts":[[2008,10]]},"abstract":"<jats:p>\n                    The development of cyanosis at birth, the so-called blue baby syndrome, alerts paediatricians to the presence of congenital heart disease. In rare cases where the arterial blood gas analysis is normal the cyanosis is a consequence of methaemoglobinaemia. There are three distinct origins of methaemoglobinaemia; the presence of a haemoglobin variant, environmental toxicity and deficiency of cytochrome b5 reductase (c\n                    <jats:italic>\n                      b\n                      <jats:sub>5<\/jats:sub>\n                    <\/jats:italic>\n                    r). Two children born to two sets of first-degree related parents were cyanotic from birth. Differential diagnosis eliminated cardiac and pulmonary abnormalities. Measurement of methaemoglobin levels confirmed recessive congenital methaemoglobinaemia (RCM) and treatment with ascorbic acid was commenced. In the absence of neurological defects, type I disease was diagnosed. Sequence analysis of\n                    <jats:italic>\n                      <jats:italic>CYB5R3<\/jats:italic>\n                      revealed two different missense mutations (one which is novel, Ile85Ser) in the two families. Neither of the mutations was located in the FAD or the NADH binding sites of c\n                      <jats:italic>\n                        b\n                        <jats:sub>5<\/jats:sub>\n                      <\/jats:italic>\n                      r,\n                      <jats:italic>thus supporting a diagnosis of type I disease.<\/jats:italic>\n                    <\/jats:italic>\n                  <\/jats:p>","DOI":"10.1136\/jcp.2008.058701","type":"journal-article","created":{"date-parts":[[2008,9,26]],"date-time":"2008-09-26T13:27:49Z","timestamp":1222435669000},"page":"1122-1123","source":"Crossref","is-referenced-by-count":9,"title":["NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I: Table 1"],"prefix":"10.1136","volume":"61","author":[{"given":"M J","family":"Percy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Aslan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2008,9,26]]},"reference":[{"key":"2025121400190621000_61.10.1122.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2004.02.001"},{"key":"2025121400190621000_61.10.1122.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-05-1405"},{"key":"2025121400190621000_61.10.1122.3","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1365-2141.2008.07017.x","article-title":"Recessive congenital methaemoglobinaemia:cytochrome b5 reductase deficiency.","volume":"141","author":"Percy","year":"2008","journal-title":"Br J Haematol"},{"key":"2025121400190621000_61.10.1122.4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm337"},{"key":"2025121400190621000_61.10.1122.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.10.001"},{"key":"2025121400190621000_61.10.1122.6","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/humu.31","article-title":"Molecular basis of recessive congenital methaemoglobinaemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.","volume":"17","author":"Kugler","year":"2001","journal-title":"Hum Mutat"},{"key":"2025121400190621000_61.10.1122.7","doi-asserted-by":"publisher","DOI":"10.1038\/sj.thj.6200380"},{"key":"2025121400190621000_61.10.1122.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1409-x"},{"key":"2025121400190621000_61.10.1122.9","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/ajmg.a.30467","article-title":"A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II.","volume":"133","author":"Y\u00c4\u00b1lmaz","year":"2005","journal-title":"Am J Med Genet A"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.2008.058701","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T08:19:11Z","timestamp":1765700351000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.2008.058701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,26]]},"references-count":9,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2008,9,26]]},"published-print":{"date-parts":[[2008,10]]}},"alternative-id":["10.1136\/jcp.2008.058701"],"URL":"https:\/\/doi.org\/10.1136\/jcp.2008.058701","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,26]]}}}