Editorial

Editorial
  • Sema Kalkan Uçar
J Pediatr Res 2018; 5: 0-0

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
J Pediatr Res 2018; 5: 1-6 DOI: 10.4274/jpr.00710
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
J Pediatr Res 2018; 5: 7-11 DOI: 10.4274/jpr.20982
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
J Pediatr Res 2018; 5: 12-16 DOI: 10.4274/jpr.87609
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
J Pediatr Res 2018; 5: 17-21 DOI: 10.4274/jpr.33042
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
J Pediatr Res 2018; 5: 22-27 DOI: 10.4274/jpr.75046
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
J Pediatr Res 2018; 5: 28-33 DOI: 10.4274/jpr.52244
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
J Pediatr Res 2018; 5: 34-38 DOI: 10.4274/jpr.36025
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
  • Ebru Canda
  • Melis Köse
  • Havva Yazıcı
  • Esra Er
  • Cenk Eraslan
  • Ferda Özkınay
  • Sema Kalkan Uçar
  • Mahmut Çoker
  • Sara Habif
  • Emin Karaca
  • Hüseyin Onay
J Pediatr Res 2018; 5: 39-43 DOI: 10.4274/jpr.59454

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
J Pediatr Res 2018; 5: 44-46 DOI: 10.4274/jpr.89421
“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
J Pediatr Res 2018; 5: 47-50 DOI: 10.4274/jpr.55477
Siblings with Ethylmalonic Encephalopathy: Case Report
  • Çiğdem Seher Kasapkara
  • Ayşe Aksoy
  • Emine Polat
  • Mustafa Kılıç
  • Serdar Ceylaner
J Pediatr Res 2018; 5: 51-53 DOI: 10.4274/jpr.65477
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
J Pediatr Res 2018; 5: 54-56 DOI: 10.4274/jpr.63825
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
J Pediatr Res 2018; 5: 57-59 DOI: 10.4274/jpr42275
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
J Pediatr Res 2018; 5: 60-62 DOI: 10.4274/jpr.85530

Letter to the Editor

Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child
  • Özge Dedeoğlu
  • Çiğdem Kasapkara
  • Kader Karlı Oğuz
  • Esma Altınel
  • Ayşe Aksoy
J Pediatr Res 2018; 5: 63-65 DOI: 10.4274/jpr.63325

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