Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign von Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli

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Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience von Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli

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Targeting the liver to treat the eye von Seker Yilmaz, Berna, Gissen, Paul

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A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome von Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli

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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease von Yilmaz, Berna Seker, Baruteau, Julien, Rahim, Ahad A., Gissen, Paul

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Hiperkarotenemi von Nefise Hilal Cansever Övetti, Halise Neslihan Önenli Mungan, Berna Şeker Yılmaz, Fatma Derya Bulut

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Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency von Seker Yilmaz, Berna, Gissen, Paul

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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders von Yilmaz, Berna Seker, Ceylaner, Serdar, Mungan, Neslihan Onenli

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Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri von Kor,Deniz, Bulut,Derya, Şeker Yılmaz,Berna, Kılavuz,Sebile, Önenli Mungan,Halise Neslihan

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Evaluation of bone health in patients with mucopolysaccharidosis von Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

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Novel therapies for mucopolysaccharidosis type III von Seker Yilmaz, Berna, Davison, James, Jones, Simon A., Baruteau, Julien

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Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia von Seker Yilmaz, Berna, Kor, Deniz, Bulut, Fatma Derya, Kilavuz, Sebile, Ceylaner, Serdar, Onenli Mungan, Halise Neslihan

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L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu von İncecik, Faruk, Mungan, Neslihan, Hergüner, Özlem Mihriban, Kör, Deniz, Şeker, Berna, Altunbasak, Sakir

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Predictors of Intractable Childhood Epilepsy von Seker Yilmaz, Berna, MD, Okuyaz, Cetin, MD, Komur, Mustafa, MD

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Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys von Baruteau, Julien, Cunningham, Sharon C., Yilmaz, Berna Seker, Perocheau, Dany P., Eaglestone, Simon, Burke, Derek, Thrasher, Adrian J., Waddington, Simon N., Lisowski, Leszek, Alexander, Ian E., Gissen, Paul

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First case report of Gaucher disease and Graves' thyroiditis von Mungan, Neslihan Önenli, Kor, Deniz, Kılavuz, Sebile, Bulut, Derya, Yılmaz, Berna Şeker

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study von Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul

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Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency von Ibrahim, Majitha Seyed, Gold, Jessica I, Woodall, Alison, Yilmaz, Berna Seker, Gissen, Paul, Stepien, Karolina M

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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis von Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan

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COMT genotype predicts BOLD signal and noise characteristics in prefrontal circuits von Winterer, Georg, Musso, Francesco, Vucurevic, Goran, Stoeter, Peter, Konrad, Andreas, Seker, Berna, Gallinat, Juergen, Dahmen, Norbert, Weinberger, Daniel R.

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