{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:40:36Z","timestamp":1761093636408,"version":"build-2065373602"},"reference-count":32,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2010,12]]},"DOI":"10.1016\/j.bcmd.2010.08.006","type":"journal-article","created":{"date-parts":[[2010,9,27]],"date-time":"2010-09-27T09:41:25Z","timestamp":1285580485000},"page":"280-283","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Red cell pyruvate kinase deficiency in Southern Sardinia"],"prefix":"10.1016","volume":"45","author":[{"given":"L.","family":"Perseu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Giagu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Satta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Sollaino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Congiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Galanello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bcmd.2010.08.006_bb0005","first-page":"100","article-title":"A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia","volume":"74","author":"Valentine","year":"1961","journal-title":"Trans. Assoc. Am. Physicians"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0010","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1159\/000132530","article-title":"The human liver pyruvate kinase (PKL) gene is on chromosome 1 at band q21","volume":"47","author":"Satoh","year":"1988","journal-title":"Cytogenet. Cell. Genet."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0015","doi-asserted-by":"crossref","first-page":"14366","DOI":"10.1016\/S0021-9258(18)47947-1","article-title":"The L- and R-type isozymes of rate pyruvate kinase are produced from a single gene by use of different promoters","volume":"262","author":"Noguchi","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0020","doi-asserted-by":"crossref","first-page":"8218","DOI":"10.1073\/pnas.88.18.8218","article-title":"cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384\u2192Met) affecting anzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia","volume":"88","author":"Kanno","year":"1991","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0025","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2141.2005.05527.x","article-title":"Red cell pyruvate kinase deficiency: molecular and clinical aspects","volume":"130","author":"Zanella","year":"2005","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0030","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1172\/JCI117846","article-title":"Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia","volume":"95","author":"Baronciani","year":"1995","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0035","first-page":"57","article-title":"Red cell pyruvate kinase (PK) deficiency: from genetics to clinical manifestations","volume":"13","author":"Zanella","year":"2000","journal-title":"Bailliere's Clin. Hematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0040","doi-asserted-by":"crossref","first-page":"3847","DOI":"10.1182\/blood.V89.10.3847","article-title":"Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients","volume":"89","author":"Zanella","year":"1997","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0045","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1046\/j.1365-2141.2001.02711.x","article-title":"Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients","volume":"113","author":"Zanella","year":"2001","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0050","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1111\/j.1365-2141.2005.05520.x","article-title":"Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene","volume":"129","author":"Fermo","year":"2005","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0055","doi-asserted-by":"crossref","first-page":"3585","DOI":"10.1182\/blood.V95.11.3585","article-title":"Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population","volume":"95","author":"Beutler","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0060","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1006\/bcmd.2001.0433","article-title":"Iron status and HFE genotype and erythrocyte pyruvate kinase deficiency: study of Italian cases","volume":"27","author":"Zanella","year":"2001","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0065","first-page":"431","article-title":"Simultaneous automated determination of glucose 6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood","volume":"34","author":"Mosca","year":"1996","journal-title":"Eur. J. Clin. Chem. Clin. Biochem."},{"year":"1984","series-title":"Red cell metabolism: a manual of biochemical methods","author":"Beutler","key":"10.1016\/j.bcmd.2010.08.006_bb0070"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0075","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1182\/blood-2004-01-0177","article-title":"Noninvasive measurement and imaging of liver concentrations using proton magnetic resonance","volume":"105","author":"St. Pierre","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0080","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/(SICI)1096-8652(199812)59:4<273::AID-AJH2>3.0.CO;2-3","article-title":"Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia","volume":"59","author":"Galanello","year":"1998","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0085","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1046\/j.1365-2141.2001.03200.x","article-title":"Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia","volume":"115","author":"Galanello","year":"2001","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0090","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/ng0896-399","article-title":"A novel MHC Class I-Like gene is mutated in patients with hereditary hemochromatosis","volume":"13","author":"Feder","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0095","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1182\/blood.V83.10.2817.2817","article-title":"Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia","volume":"83","author":"Lenzner","year":"1994","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0100","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1056\/NEJM199511023331802","article-title":"The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome","volume":"333","author":"Bosma","year":"1995","journal-title":"N Engl J. Med."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0105","doi-asserted-by":"crossref","first-page":"4324","DOI":"10.1073\/pnas.90.9.4324","article-title":"Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia","volume":"90","author":"Baronciani","year":"1993","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0110","first-page":"75","article-title":"Hydrops fetalis associated with red cell pyruvate kinase deficiency","volume":"1","author":"Hennekam","year":"1990","journal-title":"Genet. Couns."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0115","first-page":"81","article-title":"Prenatal diagnosis of homozygous pyruvate kinase deficiency","volume":"24","author":"Afriat","year":"1995","journal-title":"J. Ginecol., Obstet. Biol. Reprod."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0120","doi-asserted-by":"crossref","first-page":"23807","DOI":"10.1074\/jbc.M202107200","article-title":"Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia","volume":"277","author":"Valentini","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0125","doi-asserted-by":"crossref","first-page":"3113","DOI":"10.1182\/blood.V98.10.3113","article-title":"Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causino nonspherocytic hemolytic anemia","volume":"98","author":"Wang","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0130","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1182\/blood.V89.5.1793","article-title":"Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia","volume":"89","author":"Lenzner","year":"1997","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0135","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1365-2141.2004.05209.x","article-title":"PK Aarau: first homozygous nonsense mutation causino pyruvate kinase deficiency","volume":"127","author":"Sedano","year":"2004","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0140","first-page":"258a","article-title":"Hyperbilirubinemia in pyruvate kinase deficiency: the role of Gilbert's syndrome [abstract]","volume":"102","author":"Sampietro","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2010.08.006_bb0145","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1365-2141.1993.tb04675.x","article-title":"Iron status in red cell pyruvate kinase deficiency: study of Italian cases","volume":"83","author":"Zanella","year":"1993","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0150","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1159\/000207129","article-title":"Serum ferritin levels in thalassemia and the effect of splenectomy","volume":"66","author":"Pootrakul","year":"1981","journal-title":"Acta Haematol."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0155","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/sj.thj.6200556","article-title":"Unexpectedly high but still asymptomatic iron overload in a patient with pyruvate kinase deficiency","volume":"5","author":"Andersen","year":"2004","journal-title":"Hematol. J."},{"key":"10.1016\/j.bcmd.2010.08.006_bb0160","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/S0016-5085(98)70319-1","article-title":"Heterogeneity of hemocromatosis in Italy","volume":"114","author":"Piperno","year":"1998","journal-title":"Gastroenterology"}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979610002044?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979610002044?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:27:06Z","timestamp":1761049626000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979610002044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["S1079979610002044"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2010.08.006","relation":{},"ISSN":["1079-9796"],"issn-type":[{"type":"print","value":"1079-9796"}],"subject":[],"published":{"date-parts":[[2010,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Red cell pyruvate kinase deficiency in Southern Sardinia","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2010.08.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}