{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:42:11Z","timestamp":1696570931076},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T00:00:00Z","timestamp":1391040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label \/><jats:p>Pyruvate kinase (PK) deficiency is the commonest enzyme deficiency in the glycolytic pathway leading to hemolytic anemia secondary to decreased Adenosine Triphosphate (ATP) synthesis in the red cells. synthesis. PK deficiency due to mutations in the PKLR (1q21) gene leads to highly variable clinical presentation ranging from severe fetal anemia to well compensated anemia in adults. We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). Persistently low erythrocyte PK levels and double heterozygous mutations present in the PKLR gene confirmed the diagnosis of PK deficiency. Pediatr Blood Cancer 2014; 61:1463\u20131465. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24953","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T12:31:08Z","timestamp":1391085068000},"page":"1463-1465","source":"Crossref","is-referenced-by-count":7,"title":["Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney"],"prefix":"10.1002","volume":"61","author":[{"given":"Marwa Abu El","family":"Haija","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Oncology University of Texas Medical Branch at Galveston Galveston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"You\u2010Wen","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Texas Medical Branch at Galveston Galveston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akila","family":"Muthukumar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology University of Texas Medical Branch at Galveston Galveston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/beha.1999.0057"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830420108"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.5_Spec_No.523"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051314"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117846"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106539"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01633140"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10380"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2005.07.008"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb04675.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1007\/s00467-012-2141-9","article-title":"Unilateral multicystic dysplastic kidney: Does initial size matter","volume":"27","author":"Hayes WN","journal-title":"Pediatr Nephrol"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-0828-8"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2006.095786"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(88)90515-X"},{"key":"e_1_2_5_16_1","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1182\/blood.V48.5.653.653","article-title":"Causal mechanisms of multiple acquired red cell enzyme defects in a patient with acquired dyserythropoiesis","volume":"48","author":"Kahn A","year":"1976","journal-title":"Blood"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(74)90429-X"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24953","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24953","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24953","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T02:30:10Z","timestamp":1696473010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24953"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,30]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/pbc.24953"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24953","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,30]]}}}