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

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

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

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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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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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Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patients von Mungan, Neslihan, Bulut, Fatma Derya, Şeker-Yılmaz, Berna, Kılavuz, Sebile, Kör, Deniz, Koç, Filiz, Gürkan, Emel, Paydaş, Saime, Güvenç, Birol, Atmış, Bahriye, Deniz, Ali

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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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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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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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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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