{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T18:08:14Z","timestamp":1697911694585},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":7922,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1984,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A nonspherocytic hemolytic anemia, associated with a pyruvate kinase (PK) deficiency apparently inherited as a dominant trait has been identified in a family. In the affected members, the residual PK activities were 20% that of normal controls, an unusually low level for heterozygous subjects. The anemia was mild except in the proband, a 2\u2010year\u2010old boy who suffered from a severe anemia.<\/jats:p><jats:p>The PKs of the proband and of his both parents have been characterized as kinetically and electrophoretically normal enzymes. Immunoprecipitation tests indicated a large amount of L\u2010type inactive protein in the proband and his father. Moreover, an M<jats:sub>2<\/jats:sub> type PK was present in the father's hemolysate, suggesting the existence of a compensatory process that derepressed the corresponding structural gene. We suggest that the presence of one or more mutated subunits in the tetrameric forms of L\u2010type PK leads to the inactivation of these tetramers. This hypothesis accounts for the low residual activity in affected heterozygous members of this family. The severity of the hematological symptoms in the proband, in comparison with the mild hemolysis observed in the other heterozygous members of the family points to the existence of a large spectrum of pathologic expression for an identical PK defect present in a family.<\/jats:p>","DOI":"10.1002\/ajh.2830170305","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T10:07:05Z","timestamp":1172052425000},"page":"251-260","source":"Crossref","is-referenced-by-count":5,"title":["Erythrocytic pyruvate kinase deficiency and hemolytic anemia inherited as a dominant trait"],"prefix":"10.1002","volume":"17","author":[{"given":"Jeanne","family":"Etiemble","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Picat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didier","family":"Dhermy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne A.","family":"Buc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Morin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Boivin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"The Metabolic Basis of Inherited Disease","author":"Valentine WN","year":"1981"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1972.tb00985.x"},{"key":"e_1_2_1_4_2","first-page":"359","article-title":"Familial hemolytic anemia resulting from an abnormal red blood cell pyruvate kinase","volume":"72","author":"Sachs JR","year":"1968","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1976.tb01146.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282016"},{"key":"e_1_2_1_7_2","first-page":"328","article-title":"The removal of leukocytes and platelets from whole blood","volume":"88","author":"Beutler E","year":"1976","journal-title":"J Lab Clinic Med"},{"key":"e_1_2_1_8_2","volume-title":"A Manual of Biochemical Methods,","author":"Beutler E","year":"1975"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(78)90009-8"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1979.tb03751.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(77)90141-3"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1462-5822.2007.00901.x"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00789a030"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110666"},{"key":"e_1_2_1_15_2","first-page":"109","article-title":"Techniques de dosage des enzymes glycolytiques tissulaires","volume":"25","author":"Cartier P","year":"1967","journal-title":"Ann Biol Clin"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(70)90023-0"},{"key":"e_1_2_1_17_2","first-page":"687","article-title":"La mesure de leur d\u00e9formabilit\u00e9 en fonction de l'osmolalit\u00e9. R\u00e9sultats obtenus par un ektacytom\u00e9tre automatis\u00e9 sur le sang normal et dans diff\u00e9rentes an\u00e9mies h\u00e9molytiques","volume":"295","author":"F\u00e9o C\u2010J","year":"1982","journal-title":"CR Acad Sci [D] (Paris)"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90011-0"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1159\/000459411"},{"key":"e_1_2_1_20_2","first-page":"917","article-title":"An\u00e9mie h\u00e9molytique h\u00e9r\u00e9ditaire par d\u00e9ficit en pyruvate kinase. Pronostic des formes n\u00e9onatales","volume":"11","author":"Boivin P","year":"1982","journal-title":"Nouv Presse Med"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830170305","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830170305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T05:43:27Z","timestamp":1697780607000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830170305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,11]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1984,11]]}},"alternative-id":["10.1002\/ajh.2830170305"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830170305","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,11]]}}}