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

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