Sodium Valproate-induced Adult-onset Type 2 Citrullinemia

by Başak Elçin Ateş, Turgay Demir, Deniz Kor, Remzi Emre Şahin, Şebnem Bıçakçı
Published 2022-09-01

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

by Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Neslihan Önenli Mungan, Fatih Kardaş
Published 2016-06-01

L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu

by Faruk İNCECİK, Neslihan MUNGAN, Özlem Mihriban Hergüner, Deniz KÖR, Berna ŞEKER, Sakir Altunbasak
Published 2014-07-01

A Case of Glutaric Aciduria Type I with a Novel Mutation

by Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan
Published 2013-08-01

Glutarik Asidüri Tip 1 de Yeni Bir Mutasyon Tanımlanan Olgu Sunumu

by Nilgün Uyduran ÜNAL, Deniz KÖR, Didem YÜCEL, Gülen Gül MERT, Neslihan Önenli MUNGAN
Published 2013-12-01

Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri

by Deniz Kor, Fatma Derya Bulut, Berna Şeker, Sebile Kılavuz, H. Neslihan Önenli̇ Mungan
Published 2020-06-01

L-2-hydroxiglutaric aciduria: Three case reports

by Faruk incecik, Neslihan Mungan, Ozlem Mihriban Herguner, Deniz Kor, Berna seker, Sakir Altunbasak
Published 2014-08-01

Bir Çocukta Epilepsi ve McArdle Hastalığı

by Faruk İNCECİK, Özlem HERGÜNER, Gülen MERT, Şeyda BESEN, Deniz KOR, Berna YILMAZ, Neslihan MUNGAN, Şakir ALTUNBAŞAK
Published 2015-10-01

Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

by Sebile Kılavuz, Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Sibel Başaran, Tunay Sarpel, Neslihan Önenli Mungan
Published 2018-03-01

Epilepsy and McArdle Disease in A Child

by Faruk incecik, Ozlem M Herguner, Gulen Mert, seyda Besen, Deniz Kor, Berna S. Yilmaz, Neslihan O. Mungan, sakir Altunbasak
Published 2015-03-01

Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

by Ayşe Hitay İnan, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, Mehmet Karakaş, Halise Neslihan Önenli Mungan
Published 2021-06-01

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

by Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan
Published 2018-03-01

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

by Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin, Halise Neslihan Önenli Mungan
Published 2021-03-01

Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

by Damla Gökşen, Ediz Yeşilkaya, Samim Özen, Yılmaz Kor, Erdal Eren, Özlem Korkmaz, Merih Berberoğlu, Gülay Karagüzel, Eren Er, Ayhan Abacı, Olcay Evliyaoğlu, Emine Demet Akbaş, Edip Ünal, Semih Bolu, Özlem Nalbantoğlu, Ahmet Anık, Meltem Tayfun, Muammer Büyükinan, Saygın Abalı, Gülay Can Yılmaz, Deniz Kör, Elif Söbü, Zeynep Şıklar, Recep Polat, Şükran Darcan
Published 2021-12-01

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
Published 2022-10-01