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

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

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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders by Berna Şeker Yılmaz, Serdar Ceylaner, Neslihan Önenli Mungan

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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency by Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan

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Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations by Deniz Kör, Berna Şeker-Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Murat Öktem, Serdar Ceylaner, Dinçer Yıldızdaş, Neslihan Önenli-Mungan

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Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects by Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau

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Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations by Berna Şeker-Yılmaz, Deniz Kör, Fatma Derya Bulut, Bilgin Yüksel, Aysun Karabay-Bayazıt, Ali Kemal Topaloğlu, Gülay Ceylaner, Neslihan Önenli-Mungan

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Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey by Neslihan Önenli-Mungan, Bilgin Yüksel, Ali Kemal Topaloğlu, Berna Şeker-Yılmaz, Gülay Ceylaner, Aytül Noyan, Sevgi Yavuz, Nurcan Cengiz, Aysun Karabay-Bayazıt, Deniz Kör, Ali Anarat

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Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia by Mushtaha Ahmad, Alaa ElRasoul, Raneem Sedayou, Mohammed Tamboosi, Hanan Mahroos, Shaimaa Alrashed, Mariam Tunkar, Faisal Alzahrani, Mohammed Alharbi, Mona Aljehani, Mousa Alahmari, Khalid Alqarni, Maha Gashlan, Berna Seker Yilmaz, Nahla M. Alshaikh

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

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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency by Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

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