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

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

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

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Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia von ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ 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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Predictors of Intractable Childhood Epilepsy von Seker Yilmaz, Berna, MD, Okuyaz, Cetin, MD, Komur, Mustafa, MD

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Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign von Hitay İnan, Ayşe, Şeker Yılmaz, Berna, Bulut, Fatma Derya, Kılavuz, Sebile, Kor, Deniz, Karakaş, Mehmet, Önenli Mungan, Halise Neslihan

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

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Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience von Kılavuz, Sebile, Bulut, Fatma Derya, Kör, Deniz, Şeker Yılmaz, Berna, Başaran, Sibel, Sarpel, Tunay, Önenli Mungan, Neslihan

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A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome von Bulut, Fatma Derya, Kör, Deniz, Şeker Yılmaz, Berna, Yılmaz, Mustafa, Ufuk Altıntaş, Derya, Ceylaner, Serdar, Kılavuz, Sebile, Önenli Mungan, Neslihan

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

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Gene therapy for inherited metabolic diseases von Yilmaz, Berna Seker, Gurung, Sonam, Perocheau, Dany, Counsell, John, Baruteau, Julien

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Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia von Ahmad, Mushtaha, ElRasoul, Alaa, Sedayou, Raneem, Tamboosi, Mohammed, Mahroos, Hanan, Alrashed, Shaimaa, Tunkar, Mariam, Alzahrani, Faisal, Alharbi, Mohammed, Aljehani, Mona, Alahmari, Mousa, Alqarni, Khalid, Gashlan, Maha, Yilmaz, Berna Seker, Alshaikh, Nahla 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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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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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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Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency von Bulut, Fatma Derya, Kör, Deniz, Şeker-Yılmaz, Berna, Gül-Mert, Gülen, Kılavuz, Sebile, Önenli-Mungan, Neslihan

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Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey von Bulut, Fatma Derya, Kör, Deniz, Şeker-Yılmaz, Berna, Hergüner, Özlem, Ceylaner, Serdar, Özkınay, Ferda, Kılavuz, Sebile, Önenli-Mungan, Neslihan

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

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