Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

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dc.contributor.authorGök, Veysel
dc.contributor.authorLeblebisatan, Göksel
dc.contributor.authorGökçebay, Dilek Gürlek
dc.contributor.authorGüler, Salih
dc.contributor.authorDoğan, Muhammet Ensar
dc.contributor.authorBozdoğan, Sevcan Tuğ
dc.contributor.authorYozgat, Ayca Koca
dc.contributor.authorÖzcan, Alper
dc.contributor.authorŞahinoğlu, Esra Pekpak
dc.contributor.authorTokgöz, Hüseyin
dc.contributor.authorÇil, Metin
dc.contributor.authorSağ, Şebnem Özemri
dc.contributor.authorYılmaz, Ebru
dc.contributor.authorŞaşmaz, Hatice İlgen
dc.contributor.authorEvim, Melike Sezgin
dc.contributor.authorAkbayram, Sinan
dc.contributor.authorKaradoğan, Meriban
dc.contributor.authorMutlu, Fatma Türkan
dc.contributor.authorBoğa, İbrahim
dc.contributor.authorDoğan, Burcu Yeter
dc.contributor.authorYaralı, Neşe
dc.contributor.authorÇalışkan, Uemran
dc.contributor.authorBisgin, Atıl
dc.contributor.authorTemel, Sehime Gülsun
dc.contributor.authorKanıtlanmış, Melanie
dc.contributor.authorGibson, Kate
dc.contributor.authorDemir, Buesra Şeniz
dc.contributor.authorSaraçoğlu, Hatice
dc.contributor.authorEken, Ahmet
dc.contributor.authorKarakukcu, Çiğdem
dc.contributor.authorKarakükçü, Musa
dc.contributor.authorGüneş, Adalet Meral
dc.contributor.authorÖzbek, Namık Yaşar
dc.contributor.authorKılınç, Yurdanur
dc.contributor.authorPatıroğlu, Tuerkan
dc.contributor.authorÖzdemir, Mehmet Akif
dc.contributor.authorRoy, Noemi BA
dc.contributor.authorÜnal, Ekrem
dc.date.accessioned2024-06-10T05:47:58Z
dc.date.available2024-06-10T05:47:58Z
dc.date.issuedMAY 2024en_US
dc.departmentHKÜ, Sağlık Bilimleri Fakültesi, Hemşirelik Bölümüen_US
dc.description.abstractPyruvate 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-nine 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.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.en_US
dc.identifier.citationGök, V., Leblebisatan, G., Gökçebay, DG., Güler, S., Dogan, ME., Bozdogan, ST., Yozgat, AK., Özcan, A., Sahinoglu, EP., Tokgöz, H., Çil, M., Sag, SÖ., Yilmaz, E., Sasmaz, HI., Evim, MS., Akbayram, S., Karadogan, M., Mutlu, FT., Boga, I., Dogan, BY., Yarali, N., Çaliskan, U., Bisgin, A., Temel, SG., Proven, M., Gibson, K., Demir, BS., Saracoglu, H., Eken, A., Karakükçü, C., Karakükçü, M., Günes, AM., Özbek, NY., Kilinç, Y., Patiroglu, T., Özdemir, MA., Roy, NBA. & Ünal, E. (MAY 2024). Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants. British Journal of Haematology. https://doi.org10.1111/bjh.19575.en_US
dc.identifier.doi10.1111/bjh.19575
dc.identifier.issn0007-1048
dc.identifier.issn1365-2141
dc.identifier.orcid0000-0002-2691-4826en_US
dc.identifier.pmid38811201
dc.identifier.scopus2-s2.0-85194562256
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org10.1111/bjh.19575
dc.identifier.urihttps://hdl.handle.net/20.500.11782/4284
dc.identifier.wosWOS:001234768000001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWileyen_US
dc.relation.ispartofBritish Journal of Haematology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/restrictedAccessen_US
dc.subjectenzymeen_US
dc.subjecthaemolytic anaemiaen_US
dc.subjectPKDen_US
dc.subjectPKLRen_US
dc.subjectpyruvate kinaseen_US
dc.titlePyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
dc.typeArticle

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