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

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10.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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11.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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12.Music listening intervention vs local anaesthetic cream for pain management in infants undergoing venepuncture: A collaborative trans-disciplinary research.
Wen Fen Beh, Mohd Nasir Hashim, Wan Ju Tan, Zarina Abdul Latiff

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13.The Surgical Management Strategies in Congenital Pulmonary Airway Malformations (CPAMs): According to the Localization of the Pulmonary Involvement
Emre Divarcı, Bade Toker, Zafer Dökümcü, Coşkun Özcan, Ata Erdener

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14.Nasal Glial heterotopy in a newborn infant: A Case Report
Tuğba Barsan Kaya, Ayşe Aydan Köse, Ayşe Neslihan Tekin

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15.Occult Muscle Disease Should be Considered In Children With Unexplained Persistent Hypertransaminasemia
Naglaa Mohamed Kamal, Muhammad Rafique, Abidi Kamel, Laila Metwally Sherif

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RESEARCH ARTICLE
16.Evaluation Of Children Having Congenital Heart Disease And Hospitalized With The Diagnosis Of Lower Respiratory Tract Infection
Yasemin Özdemir Şahan, Erhan Kılıçoğlu, Zülal Ülger Tutar

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17.Practical aspects of the use of HFMEA tool in risk management of pediatric emergency department: A scrutiny in Iran
Yasamin Molavi-taleghani, Asma Abdollhayar, Mahmoud Nekoei-moghadam, Hojjat Sheikhbardsiri

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18.Varicella- Related Hospitalizations Among Immunocompetent and Immunocompromized Children In Pre-Vaccine Era: A Tertiary Care Center Experience In Turkey
Özlem Akgün Doğan, Seda Topçu Okur, Naciye Gönül Tanır

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19.Vitamin D Deficiency in Prematüre Infants and Its Effects to Neonatal Prognosıs.
Demet Terek, Gizem Özcan, Fırat Ergin, Özge Altun Köroğlu, Mehmet Yalaz, Mete Akisu, Nilgün Kültürsay

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CASE REPORT
20.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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21.Congenital penil lymphedema in a preterm neonate
Şahin Hamilçıkan, Emrah Can

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22.Early-Onset Isolated Bilateral Pheochromocytoma as a Major Clinical Manifestation of Von-Hippel Lindau (VHL) Syndrome Type 2C
Sezer Acar, Hale Tuhan, Korcan Demir, Ayça Aykut, Asude Durmaz, Ünal Utku Karaarslan, Gözde İnci, Ece Böber, Ayhan Abacı

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

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24.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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25.Severe Metabolic Acidosis And Pulmonary Edema: A Near Drowning Case
Yasemin Çoban, Mehmet Davutoğlu

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LETTER TO THE EDITOR
26.Lip and Face Oedema Due to Face Presentation
Merve Öztürk, Hülya Özdemir, Hülya Bilgen, Eren Özek

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