Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series von Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli

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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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Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children von Gökşen, Damla, Yeşilkaya, Ediz, Özen, Samim, Kor, Yılmaz, Eren, Erdal, Korkmaz, Özlem, Berberoğlu, Merih, Karagüzel, Gülay, Er, Eren, Abacı, Ayhan, Evliyaoğlu, Olcay, Akbaş, Emine Demet, Ünal, Edip, Bolu, Semih, Nalbantoğlu, Özlem, Anık, Ahmet, Tayfun, Meltem, Büyükinan, Muammer, Abalı, Saygın, Can Yılmaz, Gülay, Kör, Deniz, Söbü, Elif, Şıklar, Zeynep, Polat, Recep, Darcan, Şükran

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Sodium Valproate-induced Adult-onset Type 2 Citrullinemia von Ateş, Başak Elçin, Demir, Turgay, Kor, Deniz, Şahin, Remzi Emre, Bıçakçı, Şebnem

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

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A Case of Glutaric Aciduria Type I with a Novel Mutation von Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan

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Epilepsy and McArdle Disease in a Child von İncecik, Faruk, Hergüner, Özlem, Mert, Gülen, Besen, Şeyda, Kor, Deniz, Yılmaz, Berna, Mungan, Neslihan Önenli, Altunbaşak, Şakir

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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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Efficacy of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 or type 3: The ELIKIDS study von Giraldo, Pilar, Kor, Deniz, Kissell, Julie, Li, Ning, Xu, Christine, Cil, Sefika Uslu, Drelichman, Guillermo I., Batsu, Isabela

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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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Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone von Önenli Mungan, Neslihan, Yıldızdaş, Dinçer, Kör, Deniz, Horoz, Özden Özgür, İncecik, Faruk, Öktem, Murat, Sander, Johannes

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Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene von İpek, Rojan, Çavdartepe, Büşra Eser, Kor, Deniz, Okuyaz, Çetin

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

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Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria von Bulut, Fatma Derya, Kor, Deniz, Kilavuz, Sebile, Cicek, Ebru, Koseci, Burcu, Kara, Esra, Burgac, Ezgi, Kaplan, İrem, Onenli Mungan, Neslihan

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

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

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Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey von Bulut, Fatma Derya, Seydaoğlu, Gülşah, Kor, Deniz, Kılavuz, Sebile, Boz, Aslı, Önenli Mungan, Neslihan

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