Abstracting and Indexing
Ege University Faculty of Medicine Department of Pediatrics
E-ISSN: 2587-2478
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1
Original Article
8
Case Report
6
Letter to the Editor
1
Editorial
Editorial
Sema Kalkan Uçar
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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
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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
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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
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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
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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
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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
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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
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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
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Case Report
Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes
Mehmet Gündüz
Nevra Koç
Özlem Ünal
Seyit Ahmet Uçaktürk
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“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
Asburçe Olgaç
Leyla Tümer
Serdar Ceylaner
Gürsel Biberoğlu
Alev Hasanoğlu
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Siblings with Ethylmalonic Encephalopathy: Case Report
Çiğdem Seher Kasapkara
Ayşe Aksoy
Emine Polat
Mustafa Kılıç
Serdar Ceylaner
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A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
Fatma Derya Bulut
Deniz Kör
Berna Şeker Yılmaz
Mustafa Yılmaz
Derya Ufuk Altıntaş
Serdar Ceylaner
Sebile Kılavuz
Neslihan Önenli Mungan
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Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Havva Yazıcı
Ebru Canda
Esra Er
Mehmet Arda Kılınç
Sema Kalkan Uçar
Bülent Karapınar
Mahmut Çoker
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Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis
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
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Letter to the Editor
Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child
Özge Dedeoğlu
Kader Karlı Oğuz
Ayşe Aksoy
Çiğdem Kasapkara
Esma Altınel
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Journal Information
Date of Foundation
Mar 2014
Abbreviation
J Pediatr Res
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