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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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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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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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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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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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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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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A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I von Uçar, Habibe Koç, Tümgör, Gökhan, Kör, Deniz, Kardaş, Fatih, Mungan, Neslihan Önenli

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Blue-colored sweating: four infants with apocrine chromhidrosis von Yöntem, Ahmet, Kör, Deniz, Hızlı-Karabacak, Bircan, Karakaş, Mehmet, Önenli-Mungan, Neslihan

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X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms von İncecik, Faruk, Hergüner, M Özlem, Mert, Gülen, Önenli-Mungan, Neslihan, Ceylaner, Serdar, Kör, Deniz, Altunbaşak, Şakir

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

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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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Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene von Zanetti, Alessandra, Önenli-Mungan, Neslihan, Elcioglu, Nursel, Özbek, Mehmet Nuri, Kör, Deniz, Lenzini, Elisabetta, Scarpa, Maurizio, Tomanin, Rosella

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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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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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