{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:22Z","timestamp":1760730502639,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,6]]},"abstract":"<jats:p>A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Dublin.<\/jats:p>","DOI":"10.1136\/jmg.17.3.191","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"191-193","source":"Crossref","is-referenced-by-count":4,"title":["G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred."],"prefix":"10.1136","volume":"17","author":[{"given":"S R","family":"McCann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Smithwick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I J","family":"Temperley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Tipton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,6,1]]},"reference":[{"key":"ref_1","article-title":"Pathophysiology of blood","author":"Erslev, A.J.; Gabuzda, T.G.","year":"1975","unstructured":"Erslev AJ, Gabuzda TG. Pathophysiology of blood. Philadelphia: Saunders, 1975."},{"key":"ref_2","first-page":"1","article-title":"Standardisation of procedures of the study of","volume":"366","author":"Organization, World Health","year":"1967","unstructured":"World Health Organization. Standardisation of procedures of the study of G-6-PD. WHO Tech Rep Ser 1967;366:1-53."},{"key":"ref_3","article-title":"Red cell metabolism. A manual of biochemical methods","author":"Beutler, E.","year":"1975","unstructured":"Beutler E. Red cell metabolism. A manual of biochemical methods. New York: Grune and Stratton, 1975."},{"key":"ref_4","first-page":"1286","article-title":"Haemolysis in glucose-6-phosphate dehydrogenase deficiency","volume":"31","author":"Motulsky, A.G.","year":"1972","unstructured":"Motulsky AG. Haemolysis in glucose-6-phosphate dehydrogenase deficiency. FedProc 1972;31:1286.","journal-title":"FedProc"},{"key":"ref_5","article-title":"Rundles RW. Hematology","author":"Williams, W.J.; Beutler, E.; Erslev, A.J.","year":"1977","unstructured":"Williams WJ, Beutler E, Erslev AJ, Rundles RW. Hematology. New York: McGraw-Hill, 1977."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1111\/j.1469-1809.1978.tb01902.x","article-title":"Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation","volume":"41","author":"Beutler, E.; Yoshida, A.","year":"1978","unstructured":"Beutler E, Yoshida A. Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation. Ann Hum Genet 1978;41:347-53.","journal-title":"Ann Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.3.191","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:23:25Z","timestamp":1760729005000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.3.191"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,6]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1980,6,1]]},"published-print":{"date-parts":[[1980,6]]}},"alternative-id":["10.1136\/jmg.17.3.191"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.3.191","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,6]]}}}