E-ISSN: 2587-2478
Archives

Volume 5, Issue 1

March 2018

Back to Archives Download Issue
Original Article
Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
Havva Yazıcı
Esra Er
Ebru Canda
Sara Habif
Sema Kalkan Uçar
Mahmut Çoker
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
Sebile Kılavuz
Fatma Derya Bulut
Deniz Kör
Berna Şeker Yılmaz
Sibel Başaran
Tunay Sarpel
Neslihan Önenli Mungan
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis
Esra Er
Ebru Canda
Havva Yazıcı
Cenk Eraslan
Eser Sözmen
Sema Kalkan Uçar
Mahmut Çoker
False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor
Eser Yıldırım Sözmen
Meral Dondurmacı
Sema Kalkan Uçar
Mahmut Çoker
Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience
Ebru Canda
Havva Yazıcı
Esra Er
Sema Kalkan Uçar
Hüseyin Onay
Eser Sözmen
Ferda Özkınay
Mahmut Çoker
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience
Ebru Canda
Havva Yazıcı
Esra Er
Cenk Eraslan
Sema Kalkan Uçar
Mahmut Çoker
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey
Havva Yazıcı
Ebru Canda
Esra Er
Sema Kalkan Uçar
Hüseyin Onay
Ferda Özkınay
Mahmut Çoker
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
Ebru Canda
Melis Köse
Havva Yazıcı
Esra Er
Cenk Eraslan
Sema Kalkan Uçar
Sara Habif
Emin Karaca
Hüseyin Onay
Ferda Özkınay
Mahmut Çoker