Browsing by Author "Sağ, Şebnem Özemri"
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Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
Gök, Veysel; Leblebisatan, Göksel; Gökçebay, Dilek Gürlek; Güler, Salih; Doğan, Muhammet Ensar; Bozdoğan, Sevcan Tuğ; Yozgat, Ayca Koca; Özcan, Alper; Şahinoğlu, Esra Pekpak; Tokgöz, Hüseyin; Çil, Metin; Sağ, Şebnem Özemri; Yılmaz, Ebru; Şaşmaz, Hatice İlgen; Evim, Melike Sezgin; Akbayram, Sinan; Karadoğan, Meriban; Mutlu, Fatma Türkan; Boğa, İbrahim; Doğan, Burcu Yeter; Yaralı, Neşe; Çalışkan, Uemran; Bisgin, Atıl; Temel, Sehime Gülsun; Kanıtlanmış, Melanie; Gibson, Kate; Demir, Buesra Şeniz; Saraçoğlu, Hatice; Eken, Ahmet; Karakukcu, Çiğdem; Karakükçü, Musa; Güneş, Adalet Meral; Özbek, Namık Yaşar; Kılınç, Yurdanur; Patıroğlu, Tuerkan; Özdemir, Mehmet Akif; Roy, Noemi BA; Ünal, Ekrem (Wiley, MAY 2024)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-nine patients who had been diagnosed as PKD ...