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1.“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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2.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

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3.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

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4.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

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5.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

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6.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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7.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

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8.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

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9.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

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

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12.Successful Management Of Ornithine Transcarbamylase Deficiency Presenting With Metabolic Stroke In a Child
Özge Dedeoğlu, Çiğdem Kasapkara, Kader Karlı Oguz, Esma Altınel, Ayşe Aksoy

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13.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

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14.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

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15.Recent Developments in School- Based Health Services in Turkey
Serpil Uğur Baysal, Tolga Ince

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16.A rare case of cholestasis: arthrogryposis, renal tubular disorder and cholestasis syndrome.
Yelda Türkmenoğlu, Yeşim Acar, Fatih Cemal Özdemir, Ralfi Singer, Afig Berdeli, Servet Erdal Adal

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17.A Rare Cause of Acute Abdominal Pain in Childhood: Peptic Ulcer Perforation
Ali Yurtseven, Mehtap Küçük, Zafer Dökümcü, Caner Turan, Eylem Ulaş Saz

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18.A Rare Cause of Neck Mass: Pilomatrixoma
Caner Turan, Ali Yurtseven, Eylem Ulaş Saz

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19.Does Obesity Affect The Ocular Choroid Tissue in Children and Adolescents?
Bediz Özen, Hakan Öztürk, Gönül Çatlı, Bumin Dündar

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20.Evaluation of children cases admitted for tick bite and tick species in İstanbul
Abdurrahman Avar Özdemir, Yakup Yeşil, Aynur Gülanber, Ilker Efil

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21.Evaluation of Dynamic Postural Balance in Pediatric Familial Mediterranean Fever Patients
Resul Yılmaz, Ahmet Inanır, Nafia Özlem Kazancı, Nurşen Çakan, Ali Gül

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22.Familial Mediterranean Fever Mimic Wilson’s Disease: A Case Report
Caner Turan, Miray Karakoyun, Çiğdem Ömür Ecevit, Funda Yılmaz, Sema Aydoğdu

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23.Pediatric bilateral pheochromocytoma and experience of laparoscopic cortical sparing adrenalectomy
Ayça Altıncık, Samim Özen, Ahmet Çelik, Zafer Dökümcü, Şükran Darcan, Ayhan Abacı, Ece Böber

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24.Post-traumatic delayed peripheral facial palsy
Leyla Kansu

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25.The Effect Of Exercise On Bone Mineral Density İn Patients With Down Syndrome
Gamze Dilek, Cihat Ozturk, Asiye Simin Hepguler, Ferda Ozkinay, Mustafa Dilek

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RESEARCH ARTICLE
26.Assessment of Endotracheal Tube Position after Oral Intubation in Neonates
Ali Gul, Şahin Takçı, Deniz Anuk Ince, Şeyma Ünüvar

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27.Comparison of Burn Depth at Different Temperatures on Ex Vivo Human Skin with Standardized Model and Comparison of The Results with Rat Contact Burn Model
Mehmet Surhan Arda, Nilsun Kuas, Erdem Söztutar, Atacan Emre Koçman, Hüseyin Ilhan

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28.Determination of Effective Speech Skills of Pediatric Nurses and Affecting Factors
Sibel Küçükoğlu, Semra Köse, Aynur Aytekin Özdemir, Neşe Taşkıran

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29.Determining risk factors of epilepsy in children with cerebral palsy: A retrospective study
Ferda Gürkan, Sarenur Gökben, Hepsen Mine Serin, Sanem Yılmaz, Gül Aktan, Hasan Tekgül

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30.The Attitude of Female Pediatricians On Birth, Breastfeeding and Child Care On Their Own Children In Turkey
Özlem Bağ, Utku Karaarslan

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31.The effect of music listened to during recovery period after day surgery on anxiety state and vital signs of child and adolescent
Atiye Karakul, Zehra Bahire Bolışık

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CASE REPORT
32.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

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33.Acute ophthalmoplegia; same disease, different variants: Anti GQ1b antibody syndrome
Senem Ayça, Anna Carina Ergani, Muzaffer Polat

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34.Progressive pseudorheumatoid condrodysplasia, an unusual cause of joint swelling and stiffness
Esra Kılıç

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35.Relation of Attention Deficit-Hyperactivity Disorder in the Spectrum of Anorexia Nervosa to Obesity: A Case Report
Tuğba Kalyoncu, Burak Baytunca, Sezen Köse, Burcu Özbaran

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36.Sturge-Weber Syndrome Type III
Hande Gazeteci Tekin, Sarenur Gökben, Sanem Yılmaz, Hasan Tekgül, Gül Serdaroğlu

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37.Triple X syndrome with a rare finding: cleft palate
Esra Gürkaş, Hülya Maraş Genç, Esra Kılıç

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