Browsing by Author "Gök, Veysel"
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Clinical spectrum of primary hemophagocytic lymphohistiocytosis: Experience of reference centers in Central and Southeast Anatolia
Akyol, Şefika; Yılmaz, Ebru; Tokgöz, Hüseyin; Karaman, Kamuran; Pekpak, Esra; Özcan, Alper; Şi̇mşek, Ayşe; Arslan, Bilal; Ören, Ayşe Ceyda; Gökçeli̇, Habibe Selver; Acıpayam, Can; Güzel, Turan; Tuncel, Defne Ay; Gök, Veysel; Arslan, Kübra; Eken, Ahmet; Canatan, Halit; Akbayram, Sinan; Karakükcü, Musa; Aycan, Nur; Çalışkan, Ümran; Patıroğlu, Türkan; Özdemi̇r, Mehmet Akif; Chiang, Samuel C. C.; Bryceson, Yenan T.; Ünal, Ekrem (Springer Science and Business Media Deutschland GmbH, 2024)Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease, with a high mortality if left untreated. In addition, the disease has unique diagnostic challenges. Therefore, despite the existing guidelines on ... -
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 ...