False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

by Eser Yıldırım Sözmen, Meral Dondurmacı, Sema Kalkan Uçar, Mahmut Çoker
Published 2018-03-01

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

by Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker
Published 2017-01-01

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

by Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker
Published 2018-03-01

Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

by Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker
Published 2018-03-01

Fabry disease: An overlooked diagnosis in adult cardiac patients

by Meral Kayıkçıoğlu, Evrim Şimşek, Sema Kalkan Uçar, Selen Bayraktaroğlu, Hüseyin Onay, Eser Sözmen, Mahmut Çoker
Published 2017-09-01

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

by Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
Published 2018-03-01

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

by Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker
Published 2018-03-01

A novel mutation and in vivo confocal microscopic findings in Fabry disease

by Cumali Degirmenci, Suzan Guven Yilmaz, Huseyin Onay, Melis Palamar, Sema Kalkan Ucar, Meral Kayikcioglu, Mahmut Coker
Published 2017-01-01

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

by Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker
Published 2018-03-01

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

by Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka
Published 2021-09-01

Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience

by Ebru Canda, Havva Yazıcı, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Eser Sözmen, Ferda Özkınay, Mahmut Çoker
Published 2018-03-01

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

by Ebru Canda, Melis Köse, Mehtap Kağnıcı, Meral Dondurmacı, Sema Kalkan Uçar, Eser Sözmen, Reşit Ertürk Levent, Mahmut Çöker
Published 2019-06-01

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

by Ebru Canda, Melis Köse, Havva Yazıcı, Esra Er, Cenk Eraslan, Ferda Özkınay, Mahmut Çoker, Sema Kalkan Uçar, Sara Habif, Emin Karaca, Hüseyin Onay
Published 2018-03-01

The Burden Endured by Caregivers of Patients With Morquio A Syndrome

by Christian J. Hendriksz MD, Christine Lavery, Mahmut Coker MD, Sema Kalkan Ucar MD, Mohit Jain PhD, Lisa Bell PhD, Christina Lampe MD
Published 2014-07-01

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

by Ayse Ergul Bozaci, Esra Er, Havva Yazici, Ebru Canda, Sema Kalkan Uçar, Merve Güvenc Saka, Cenk Eraslan, Hüseyin Onay, Sara Habif, Beat Thöny, Mahmut Coker
Published 2021-05-01

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

by Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
Published 2018-03-01

Reliability and Validity of The Measurements Done by Using Students’ and Teachers’ Evaluation Forms in Ege University School of Medicine

by Kevser Vatansever, Şöhret Aydemi̇r, Hilal Batı, Cenk Can, Mahmut Çoker, Selda Erensoy Erensoy, Figen Gövsa, Özen Başoğlu, Lütfiye Kanıt, Nilgün Kültürsay, Oktay Nazlı, Eser Sözmen, Sıla Elif Törün, Meltem Çi̇çekli̇oğlu
Published 2020-04-01

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

by Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Published 2020-12-01