{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T21:50:56Z","timestamp":1789163456325,"version":"build-2803163510"},"reference-count":80,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,2,7]],"date-time":"2006-02-07T00:00:00Z","timestamp":1139270400000},"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":[[2006,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hereditary pyrimidine 5\u2032\u2010nucleotidase (P5\u2032N) deficiency is the most frequent abnormality of the red cell nucleotide metabolism causing hereditary non\u2010spherocytic haemolytic anaemia. The disorder is usually characterised by mild\u2010to\u2010moderate haemolytic anaemia associated with the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The precise mechanisms leading to the destruction of P5\u2032N deficient red cells are still unclear. The pyrimidine 5\u2032\u2010nucleotidase type\u2010I (P5\u2032N\u20101) gene is localised on 7p15\u2010p14 and the cDNA has been cloned and sequenced; 20 mutations have been identified so far in 30 unrelated families, most of them at the homozygous level. Recently, the comparison of recombinant mutants of human P5\u2032N\u20101 with the wild\u2010type enzyme has enabled the effects of amino acid replacements on the enzyme molecular properties to be determined and help to correlate genotype to clinical phenotype.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.05992.x","type":"journal-article","created":{"date-parts":[[2006,2,7]],"date-time":"2006-02-07T15:49:14Z","timestamp":1139327354000},"page":"113-123","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Hereditary pyrimidine 5\u2032\u2010nucleotidase deficiency: from genetics to clinical manifestations"],"prefix":"10.1111","volume":"133","author":[{"given":"Alberto","family":"Zanella","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Fermo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Valentini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M104088200"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(66)08014-5"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3040987"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(97)01464-6"},{"key":"e_1_2_8_6_1","doi-asserted-by":"crossref","first-page":"1596","DOI":"10.1182\/blood.V96.4.1596","article-title":"Human erythrocyte pyrimidine 5\u2010nucleotidase, PN\u2010I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha\u2010interferon","volume":"96","author":"Amici A.","year":"2000","journal-title":"Blood"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(02)54011-8"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-005-5135-y"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-02-0628"},{"key":"e_1_2_8_10_1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1182\/blood.V47.6.919.919","article-title":"A family with red cell pyrimidine 5\u2032\u2010nucleotidase deficiency","volume":"47","author":"Ben\u2010Bassat I.","year":"1976","journal-title":"Blood"},{"key":"e_1_2_8_11_1","volume-title":"Red Cell Metabolism: A Manual of Biochemical Methods","author":"Beutler E.","year":"1984"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198501000-00012"},{"key":"e_1_2_8_13_1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1182\/blood.V56.2.251.251","article-title":"Hemolytic anemia due to pyrimidine\u20105\u2010prime\u2010nucleotidase deficiency: report of eight cases in six families","volume":"56","author":"Beutler E.","year":"1980","journal-title":"Blood"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R300032200"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.04532.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2005.05.014"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90239-5"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90339-5"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-10-3895"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.23.14107"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1991.tb00560.x"},{"key":"e_1_2_8_22_1","first-page":"351","article-title":"Haemolytic anaemia due to pyrimidine\u20105\u2032\u2010nucleotidase deficiency","volume":"6","author":"Dvilansky A.","year":"1984","journal-title":"International Journal of Tissue Reactions"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90155-9"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90181-X"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1081\/NCN-200027532"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)84756-1"},{"key":"e_1_2_8_27_1","first-page":"229","article-title":"Report of the first case of pyrimidine 5\u2032 nucleotidase deficiency from Kuwait detected by a screening test. A case report","volume":"24","author":"Ghosh K.","year":"1991","journal-title":"Haematologia"},{"key":"e_1_2_8_28_1","first-page":"37","article-title":"Isozymes of human erythrocyte pyrimidine 5\u2032\u2010nucleotidase\u2013chromatographic separation and their properties","volume":"55","author":"Hirono A.","year":"1985","journal-title":"The Japanese Journal of Experimental Medicine"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1987.tb06132.x"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M011218200"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2005.01.003"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2257.1989.tb00174.x"},{"key":"e_1_2_8_33_1","first-page":"367","article-title":"The contribution of red cell morphology to the diagnosis of beta\u2010thalassemia trait","volume":"11","author":"Joishy S.K.","year":"1986","journal-title":"Blood Cells"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05029.x"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6359"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830260105"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1986.tb07545.x"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1987.tb06895.x"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4838(89)90065-4"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(91)90332-7"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004270000093"},{"key":"e_1_2_8_42_1","article-title":"Molecular characterization of five Portuguese patients with pyrimidine 5\u2032\u2010nucleotidase deficient hemolytic anemia \u2013 three new P5\u2032N\u2010I mutations","author":"Manco L.","year":"2006","journal-title":"Haematologica \u2013 The Hematology Journal"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.11.3327"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-11-3388"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2257.1981.tb01306.x"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1990.tb19158.x"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00393621"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90001-9"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1159\/000207094"},{"key":"e_1_2_8_50_1","doi-asserted-by":"crossref","first-page":"7973","DOI":"10.1016\/S0021-9258(19)40803-X","article-title":"Characteristics of a pyrimidine\u2010specific 5\u2032\u2010nucleotidase in human erythrocytes","volume":"250","author":"Paglia D.E.","year":"1975","journal-title":"The Journal of Biological Chemistry"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1159\/000207413"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.2.588"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.8.5409"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.15.8239"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1159\/000205278"},{"key":"e_1_2_8_56_1","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1182\/blood.V88.7.2761.bloodjournal8872761","article-title":"Interaction of hemoglobin E and pyrimidine 5\u2032 nucleotidase deficiency","volume":"88","author":"Rees D.C.","year":"1996","journal-title":"Blood"},{"key":"e_1_2_8_57_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.03980.x"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsb846"},{"key":"e_1_2_8_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4781(01)00278-0"},{"key":"e_1_2_8_60_1","first-page":"397","volume-title":"Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual","author":"Simmonds H.A.","year":"1991"},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20128"},{"key":"e_1_2_8_62_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1983.tb00966.x"},{"key":"e_1_2_8_63_1","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1182\/blood.V63.3.665.665","article-title":"Identification of cytidine diphosphodiesters in erythrocytes from a patient with pyrimidine nucleotidase deficiency","volume":"63","author":"Swanson M.S.","year":"1984","journal-title":"Blood"},{"key":"e_1_2_8_64_1","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1182\/blood.V60.5.1212.1212","article-title":"Hemolytic anemia in hereditary pyrimidine 5\u2032\u2010nucleotidase deficiency: nucleotide inhibition of G6PD and the pentose phosphate shunt","volume":"60","author":"Tomoda A.","year":"1982","journal-title":"Blood"},{"key":"e_1_2_8_65_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.9.3701"},{"key":"e_1_2_8_66_1","first-page":"671","article-title":"Haemolytic anaemia due to erythrocyte pyrimidine 5\u2032\u2010nucleotidase deficiency. Report of the first South African family","volume":"52","author":"Torrance J.D.","year":"1977","journal-title":"South African Medical Journal"},{"key":"e_1_2_8_67_1","first-page":"563","article-title":"A simple rapid radiometric assay for pyrimidine\u20105\u2032\u2010nucleotidase","volume":"90","author":"Torrance J.D.","year":"1977","journal-title":"The Journal of Laboratory and Clinical Medicine"},{"key":"e_1_2_8_68_1","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1182\/blood.V39.5.674.674","article-title":"Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency","volume":"39","author":"Valentine W.N.","year":"1972","journal-title":"Blood"},{"key":"e_1_2_8_69_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1973.tb05736.x"},{"key":"e_1_2_8_70_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107826"},{"key":"e_1_2_8_71_1","doi-asserted-by":"publisher","DOI":"10.1053\/beha.1999.0060"},{"key":"e_1_2_8_72_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295292"},{"key":"e_1_2_8_73_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1984.tb03978.x"},{"key":"e_1_2_8_74_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1986.tb01042.x"},{"key":"e_1_2_8_75_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb04675.x"},{"key":"e_1_2_8_76_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2001.0433"},{"key":"e_1_2_8_77_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05527.x"},{"key":"e_1_2_8_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200406057"},{"key":"e_1_2_8_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(85)90176-9"},{"key":"e_1_2_8_80_1","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1182\/blood.V68.5.1024.1024","article-title":"Decrease in subunit aggregation of phosphoribosylpyrophosphate synthetase: a mechanism for decreased nucleotide concentrations in pyruvate kinase\u2010deficient human erythrocytes","volume":"68","author":"Zerez C.R.","year":"1986","journal-title":"Blood"},{"key":"e_1_2_8_81_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2850345"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2006.05992.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2006.05992.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T04:33:42Z","timestamp":1697430822000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2006.05992.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,10]]},"references-count":80,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1111\/j.1365-2141.2006.05992.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2006.05992.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,10]]},"assertion":[{"value":"2006-02-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}