The Journal of Pediatric Research

: 4 (5)
Volume: 4  Issue: 5 - 2017
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1.Clinical Features of 29 Patients with Hereditary Tyrosinemia 1 in Western Turkey
Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker
Pages 1 - 6

2.Demographic, Phenotypic and Genotipic Features of Alkaptonuria Patients: A Single Centre Experience
Sebile Kilavuz, Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Sibel Başaran, Tunay Sarpel, Neslihan Önenli Mungan
Pages 7 - 11

3.Evalution Of Demographic And Clinical Characterictics Of Patients With GM2 Gangliosidosis
Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker
Pages 12 - 16

4.False positive diagnosis of lysosomal storage disease with dried blood spot sample; leucocyte number as a challenging factor
Eser Y. Sözmen, Meral Dondurmacı, Sema Kalkan Uçar, Mahmut Çoker
Pages 17 - 21

5.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
Pages 22 - 27

6.Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis IVA (Morquio A Disease): Single Center Experience
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Ucar, Mahmut Coker
Pages 29 - 33

7.Türkiye’ nin Batısından Onbeş Mukopolisakkaridozis Tip 2 Hastasının Klinik, Biyokimyasal ve Moleküler Özellikleri
Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Ucar, Hüseyin Onay, Ferda Ozkınay, Mahmut Coker
Pages 34 - 38

8.Clinical, Neuroimaging, And Genetic Features of Patients With L-2-Hydroxyglutaric Aciduria
Ebru Canda, Melis Kose, Havva Yazici, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Sara Habif, Emin Karaca, Hüseyin Onay, Ferda Özkinay, Mahmut Çoker
Pages 39 - 43

9.Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes
Mehmet Gündüz, Nevra Koç, Özlem Ünal, Seyit Ahmet Uçaktürk
Pages 44 - 46

10.“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
Pages 47 - 50

11.Siblings with Ethylmalonic encephalopathy: Case Report
Çiğdem Seher Kasapkara, Ayşe Aksoy, Emine Polat, Mustafa Kılıç, Serdar Ceylaner
Pages 50 - 53

CASE REPORT
12.A 6-month-old boy with reddish, scaly skin: Netherton syndrome
Derya Fatma Bulut, Deniz Kör, Berna Şeker-yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli-mungan
Pages 54 - 56

13.Tyrosinemia Type 1 and Reversible Neurogenic Crisis After One Month Interruption of Nitisinone
Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker
Pages 57 - 59

14.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, Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
Pages 60 - 62

15.Successful Management Of Ornithine Transcarbamylase Deficiency Presenting With Metabolic Stroke In a Child
Özge Dedeoğlu, Çiğdem Kasapkara, Kader Karlı Oguz, Esma Altınel, Ayşe Aksoy
Pages 63 - 65
Abstract