Out-of-pocket health expenditures in patients living with ınborn errors of metabolism

por Gündüz, Mehmet, Yüksel Güdek, Yasemin, Kasapkara, Çiğdem Seher
Publicado 2023

Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

por Gücüyener, Kıvılcım, Kasapkara, Çiğdem Seher, Tümer, Leyla, Verbeek, Marcel M.
Publicado 2014

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

por Kasapkara, Çiğdem Seher, Tümer, Leyla, Zanetti, Nadia, Ezgü, Fatih, Lamantea, Eleonora, Zeviani, Massimo
Publicado 2017

Unusual cause of hyperammonemia in two cases with short-term and long-term valproate therapy successfully treated by single dose carglumic acid

por Kasapkara, Çiğdem Seher, Kanğın, Murat, Taş, Funda Feryal, Topçu, Yasemin, Demir, Remezan, Özbek, Mehmet Nuri
Publicado 2013

First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey

por Kesici, Selman, Yılmaz Keskin, Ebru, Chiang, Samuel C.C., Kasapkara, Çiğdem Seher, Sekine, Takuya, Akçaboy, Meltem, Fettah, Ali, Bryceson, Yenan T.
Publicado 2018

Secondary Hemophagocytosis in Propionic Acidemia

por Kasapkara, Cigdem Seher, Kangin, Murat, Oflaz Ozmen, Banu, Ozbek, Mehmet Nuri, Demir, Remezan, Karatas, Mustafa, Tumer, Leyla, Ezgu, Fatih Suhey, Hasanoglu, Alev
Publicado 2015

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

por Yücel, Hüsniye, Genç Sel, Çiğdem, Kasapkara, Çiğdem Seher, Karacan Küçükali, Gülin, Savas-Erdeve, Senay, Öztoprak, Ülkühan, Ceylaner, Serdar, Şenel, Saliha, Akçaboy, Meltem
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