{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,3]],"date-time":"2025-08-03T04:06:27Z","timestamp":1754193987123,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T00:00:00Z","timestamp":1716940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003062","name":"Erciyes \u00dcniversitesi","doi-asserted-by":"publisher","award":["2021\u201010863"],"award-info":[{"award-number":["2021\u201010863"]}],"id":[{"id":"10.13039\/501100003062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty\u2010nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695\u20101G&gt;A and c.694+43C&gt;T) have been described. PKD should be suspected in patients with chronic non\u2010spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total <jats:italic>PKLR<\/jats:italic> gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.<\/jats:p>","DOI":"10.1111\/bjh.19575","type":"journal-article","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T21:29:04Z","timestamp":1717018144000},"page":"236-242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7195-2688","authenticated-orcid":false,"given":"Veysel","family":"G\u00f6k","sequence":"first","affiliation":[{"name":"Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine Erciyes University  Kayseri 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