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

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

por İnci, Aslı, Okur, İlyas, Tümer, Leyla, Biberoğlu, Gürsel, Öktem, Murat, Ezgü, Fatih
Publicado 2021

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

Audiologic evaluations of children with mucopolysaccharidosis()

por Gökdoğan, Çağıl, Altinyay, Şenay, Gökdoğan, Ozan, Tutar, Hakan, Gündüz, Bülent, Okur, İlyas, Tümer, Leyla, Kemaloğlu, Yusuf Kemal
Publicado 2015

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks

por Öztürk, Zeynep, Hirfanoğlu, Tuğba, İnci, Aslı, Okur, İlyas, Koç, Esin, Tümer, Leyla, Arhan, Ebru, Aydın, Kürşad, Serdaroğlu, Ayşe
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

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

por Ertoy Karagol, Hacer Ilbilge, Inci, Asli, Terece, Sinem Polat, Kilic, Ayse, Demir, Fevzi, Yapar, Dilek, Koken, Gizem, Okur, Ilyas, Ezgu, Fatih Suheyl, Tumer, Leyla, Bakirtas, Arzu
Publicado 2023

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

por DAMAR, Çağrı, DERİNKUYU, Betül Emine, KILIÇKAYA, Muazzez Asburçe Bike Olgaç, ÖZTÜRK, Mehmet, ÖZTUNALI, Çiğdem, ALIMLI, Ayşe Gül, BOYUNAĞA, Öznur Leman, UÇAR, Murat, EZGÜ, Fatih Süheyl, TÜMER, Leyla, BÖRCEK, Alp Özgün, SIĞIRCI, Ahmet
Publicado 2020