{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:19:23Z","timestamp":1790857163548,"version":"4.1.0"},"reference-count":57,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,10,13]],"date-time":"2006-10-13T00:00:00Z","timestamp":1160697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non\u2010spherocytic haemolytic anaemia (HNSHA). The gene encoding the erythrocyte enzyme <jats:italic>PGK1<\/jats:italic>, is X\u2010linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manifestations. Twenty\u2010six families have been described and in 20 of these the mutations are known. The reason for different clinical manifestations of mutations of the same gene remains unknown.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.06351.x","type":"journal-article","created":{"date-parts":[[2006,11,7]],"date-time":"2006-11-07T19:31:08Z","timestamp":1162927868000},"page":"3-11","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":79,"title":["PGK deficiency"],"prefix":"10.1111","volume":"136","author":[{"given":"Ernest","family":"Beutler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,10,13]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"1189","article-title":"Studies on erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease","volume":"14","author":"Akatsuka J.","year":"1973","journal-title":"Rinsho Ketsueki. 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