未登录 分享 收藏
分享 收藏
分享 收藏
分享 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 分享 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 分享 收藏
分享 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 分享 收藏
Farber disease clinical impact: Patient reported outcomes as a measure of disease burden Mitchell, John; Harmatz, Paul; Selim, Laila; El Din, Iman Gamal; Mungan, Neslihan; Bulut, Fatma; Lampe, Christina; Grant, Christina L.; Ferreira, Carlos R.; Puri, Ratna D.; Bijarnia-Mahay, Sunita; Arslan, Nur; Guelbert, Norberto; Zaki, Maha S.; Kapoor, Seema; Hahn, Andreas; Magnusson, Bo; Sundberg, Erik; Ozen, Seza; Batu, Ezgi D.; Di Rocco, Maja; Gokcay, Gulden; Crosby, Kathleen; Solyom, Alexander 分享 收藏
Subcutaneous nodules as a clinical biomarker of Farber disease Mitchell, John; Harmatz, Paul; Selim, Laila; El Din, Iman Gamal; Mungan, Neslihan; Bulut, Fatma; Lampe, Christina; Grant, Christina L.; Ferreira, Carlos R.; Puri, Ratna D.; Bijarnia-Mahay, Sunita; Guelbert, Noberto; Arslan, Nur; Zak, Maha S.; Kapoor, Seema; Hahn, Andreas; Magnusson, Bo; Sundberg, Erik; Ozen, Seza; Batu, Ezgi D.; Di Rocco, Maja; Gokcay, Gulden; Crosby, Kathleen; Solyom, Alexander 分享 收藏
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases Kurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita 分享 收藏
Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature Teke Kisa, Pelin; Eroglu Erkmen, Semra; Bahceci, Hilal; Arslan Gulten, Zumrut; Aydogan, Ayca; Karalar Pekuz, Ozge Kamer; Yuce Inel, Tuba; Ozturk, Taylan; Uysal, Sezer; Arslan, Nur 分享 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 分享 收藏
ASAH1pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy Elsea, Sarah H.; Solyom, Alexander; Martin, Kirt; Harmatz, Paul; Mitchell, John; Lampe, Christina; Grant, Christina; Selim, Laila; Mungan, Neslihan Oneli; Guelbert, Norberto; Magnusson, Bo; Sundberg, Erik; Puri, Ratna; Kapoor, Seema; Arslan, Nur; DiRocco, Maja; Zaki, Maha; Ozen, Seza; Mahmoud, Iman G.; Ehlert, Karoline; Hahn, Andreas; Gokcay, Gulden; Torcoletti, Marta; Ferreira, Carlos R. 分享 收藏
Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data Mitchell, John; Harmatz, Paul; Grant, Christina; Ferreira, Carlos R.; Lampe, Christina; Selim, Laila; el Din, Iman Gamal; Mungan, Neslihan; Bulut, Fatma D.; Puri, Ratna D.; Bijarnia-Mahay, Sunita; Guelbert, Norberto; Zaki, Maha S.; DiRocco, Maja; Kapoor, Seema; Magnusson, Bo; Sundberg, Erik; Arslan, Nur; Makay, Balahan; Hahn, Andreas; Ozen, Seza; Batu, Ezgi D.; Gokcay, Gulden; Torcoletti, Marta; Solyom, Alexander 分享 收藏
Robust, Long-Term Culture of Endoderm-Derived Hepatic Organoids for Disease Modeling Akbari, Soheil; Sevinc, Gulben Gurhan; Ersoy, Nevin; Basak, Onur; Kaplan, Kubra; Sevinc, Kenan; Ozel, Erkin; Sengun, Berke; Enustun, Eray; Ozcimen, Burcu; Bagriyanik, Alper; Arslan, Nur; Onder, Tamer Tevfik; Erdal, Esra 分享 收藏
Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study Solyom, Alexander; Ferreira, Carlos; Mitchell, John; Guelbert, Norberto; Mungan, Neslihan; Bulut, Fatma; Magnusson, Bo; Sundberg, Erik; Lampe, Christina; Arslan, Nur; Makay, Balahan; Puri, Ratna; Bijarnia-Mahay, Sunita; Selim, Laila; el Din, Iman Gamal; Kapoor, Seema; Di Rocco, Maja; Ozen, Seza; Batu, Ezgi Deniz; Gokcay, Gulden; Torcoletti, Marta; Kimura, Alan; Harmatz, Paul 分享 收藏
分享 收藏
分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
