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收藏Expanded pilot newborn screening for lysosomal disorders: First results from Turkey
Okur, Ilyas; Oktem, Murat R.; Inci, Asli; Ozbek, Mehmet N.; Akgun, Abdurrahman; Yildirimd, Gonca Kilic; Onala, Esra E.; Koca, Esin; Cilesiza, Kubra; Biberolua, Gursel; Ezgua, Fatih S.; Tumera, Leyla
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收藏Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
Zubarioglu, Tanyel; Kiykim, Ertugrul; Kose, Engin; Eminoglu, Fatma Tuba; Kisa, Pelin Teke; Balci, Mehmet Cihan; Ozer, Isil; Inci, Asli; Cilesiz, Kubra; Canda, Ebru; Yazici, Havva; Ozturk-Hismi, Burcu; Bulut, Fatma Derya; Dorum, Sevil; Akgun, Abdurrahman; Yalcin-Cakmakli, Guel; Kilic-Yildirim, Gonca; Soyucen, Erdogan; Akcali, Aylin; Gunes, Dilek; Durmus, Asli; Gunduz, Aysegul; Kasapkara, cigdem Seher; Goksoy, Emine; Akar, Halil Tuna; Ersoy, Melike; Erdol, Sahin; Yildiz, Yilmaz; Hanagasi, Hasmet Ayhan; Arslan, Nur; Aktuglu-Zeybek, Cigdem
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收藏Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey
Mungan, Neslihan Onenli; Coker, Mahmut; Yildirim, Gonca Kilic; Uzun, Ozlem Unal; Ersoy, Melike; Zeybek, Ayse Cigdem Aktuglu; Gunes, Seda; Arslan, Nur; Tumer, Leyla; Kilic, Mustafa; Eminoglu, Tuba; Gunduz, Mehmet; Keskin, Mehmet; Kor, Deniz; Canda, Ebru; Bulut, Derya; Ucar, Sema Kalkan
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收藏Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M.; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, Francois; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O'Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M.; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul
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收藏Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement被诊断为多种多系统受累的脑膜黄瘤病患者
Kisa, Pelin Teke; Yildirim, Gonca Kilic; Hismi, Burcu Ozturk; Dorum, Sevil; Kusbeci, Ozge Yilmaz; Topak, Ali; Baydan, Figen; Celik, Fatma Nazli Durmaz; Gorukmez, Orhan; Gulten, Zumrut Arslan; Ekici, Arzu; Ozkan, Serhat; Yaman, Aylin; Arslan, Nur
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