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Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant Akgun-Dogan, Ozlem; Diaz-Gonzalez, Francisca; de Lima Jorge, Alexander Augusto; Onenli-Mungan, Neslihan; Menezes Andrade, Nathalia Liberatoscioli; Cellin, Laurana de Polli; Ceylaner, Serdar; Rosa Modkovski, Maria Barcellos; Alanay, Yasemin; Heath, Karen E. 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
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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation 两名具有新突变的戈谢病2型患者中胎儿水肿的罕见原因 Kilavuz, Sebile; Basaranoglu, Murat; Epcacan, Serdar; Bako, Derya; Ozer, Arife; Donmez, Yasemin Nuran; Ceylan, Emine Ipek; Tukun, Ajlan; Ceylaner, Serdar; Geylani, Hadi; Mungan, Halise Neslihan Onenli 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
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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F.; Lenz, Dominic 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
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