Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

por ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ MUNGAN, Halise Neslihan
Publicado 2021

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

por Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli
Publicado 2021

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

por 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
Publicado 2021

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

por Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Publicado 2022