Articles

Original Article

Why Infants with Some Inherited Metabolic Diseases do not Develop Neonatal Indirect Hyperbilirubinemia ? An Overlooked Detail

Gökçen Kartal Öztürk
Ayşe Korkmaz
Hasan Tolga Çelik
Şule Yiğit
Murat Yurdakök
Turgay Coşkun

J Pediatr Res 2024; 11: 17-24 DOI: 10.4274/jpr.galenos.2024.80090

Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience

Ayşe Ergül Bozacı
Emine Göksoy
Aysel Tekmenuray Ünal
Hatice Mutlu Albayrak
İbrahim Taş
Berat Kanar
Mehmet Nuri Özbek
Melis Köse

J Pediatr Res 2023; 10: 182-194 DOI: 10.4274/jpr.galenos.2023.96992

Original Article

Branched-Chain Aminoacidopathies: Our Experience in Ege University Faculty of Medicine

Melis Demir Köse
Ebru Canda
Mehtap Kağnıcı
Yasemin Atik Altınok
Sema Kalkan Uçar
Sara Habif
Hüseyin Onay
Mahmut Çoker

J Pediatr Res 2016; 3: 76-81 DOI: 10.4274/jpr.76598

Case Report

Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures

Melis Demir Köse
Ebru Canda
Mehtap Kağnıcı
Rana İşgüder
Aycan Ünalp
Sema Kalkan Uçar
Luzy Bahr
Corinne Britschgi
Jörn Oliver Sass
Mahmut Çoker

J Pediatr Res 2016; 3: 113-116 DOI: 10.4274/jpr.25338

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