Adult phenotype and further phenotypic variability in SRD5A3-CDG

por Kara, Bülent, Ayhan, Özgecan, Gökçay, Gülden, Başboğaoğlu, Nurdan, Tolun, Aslıhan
Publicado 2014

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

por Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih
Publicado 2023

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective

por Akgun, Abdurrahman, Gokcay, Gulden, Mungan, Neslihan Onenli, Sivri, Hatice Serap, Tezer, Hasan, Zeybek, Cigdem Aktuglu, Ezgu, Fatih
Publicado 2023

Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature

por Selamioğlu, Arzu, Karaca, Meryem, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Durmuş, Aslı, Yıldız, Edibe Pembegül, Karaman, Serap, Gökçay, Gülden Fatma
Publicado 2023

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

por Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya
Publicado 2023

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study

por Demmelmair, Hans, MacDonald, Anita, Kotzaeridou, Urania, Burgard, Peter, Gonzalez-Lamuno, Domingo, Verduci, Elvira, Ersoy, Melike, Gokcay, Gulden, Alyanak, Behiye, Reischl, Eva, Müller-Felber, Wolfgang, Faber, Fabienne Lara, Handel, Uschi, Paci, Sabrina, Koletzko, Berthold
Publicado 2018

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

por Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Publicado 2014

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