An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Esra ER, Ebru CANDA, Havva YAZICI, Cenk ERASLAN, ESER YILDIRIM SÖZMEN, Sema KALKAN UÇAR, MAHMUT ÇOKER

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

Eser Yıldırım SÖZMEN, Meral DONDURMACI, Sema KALKAN UÇAR, MAHMUT ÇOKER

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

Havva YAZICI, Ebru CANDA, Esra ER, Sema KALKAN UÇAR, HÜSEYİN ONAY, FERİŞTAH FERDA ÖZKINAY, MAHMUT ÇOKER

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Ebru CANDA, Melis KÖSE, Havva YAZICI, Esra ER, Cenk ERASLAN, Sema KALKAN UÇAR, Sara HABİF, EMİN KARACA, HÜSEYİN ONAY, FERİŞTAH FERDA ÖZKINAY, MAHMUT ÇOKER

Lip and Face Edema Due to Face Presentation

HÜLYA ÖZDEMİR, Merve ÖZTÜRK, HÜLYA SELVA BİLGEN, EREN ÖZEK

Nasal heterotopy in a Newborn Infant: A Case Report

Tuğba KAYA BARSAN, Ayşe Aydan KÖSE, AYŞE NESLİHAN TEKİN

Music Listening Intervention vs Local Anaesthetic Cream for Pain Management in Infants Undergoing Venepuncture: A Collaborative Trans-Disciplinary Research

Wen Fen BEH, Mohd Nasir HASHİM, Wan Ju TAN, Zarina Abdul LATİFF

Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey

Özlem DOĞAN AKGÜN, Seda TOPÇU, Naciye Gönül TANIR

The Surgical Management Strategies in Congenital Pulmonary Airway Malformations: According to the Location of the Pulmonary Involvement

Emre DİVARCI, Bade TOKER, ÜLKÜM ZAFER DÖKÜMCÜ, COŞKUN ÖZCAN, HAKKI ATA ERDENER

Practical Aspects of the Use of Healthcare Failure Mode and Effects Analysis Tool in The Risk Management of Pediatric Emergency Department: The Scrutiny in Iran

Yasamin TALEGHANİ MOLAVİ, Asma ABDOLLHAYAR, Mahmoud NEKOEİ-MOGHADAM, Hojjat SHEİKHBARDSİRİ

Evaluation of Children with Congenital Heart Disease Hospitalized with the Diagnosis of Lower Respiratory Tract Infection

Yasemin ŞAHAN ÖZDEMİR, Erhan KILIÇOĞLU, Zülal Ülger TUTAR

Severe Metabolic Acidosis and Pulmonary Edema: A Near-Drowning Case

Yasemin ÇOBAN, Mehmet DAVUTOĞLU

Congenital Penil Lymphedema in a Preterm Neonate

Şahin HAMİLCİKAN, EMRAH CAN

Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C

Sezer ACAR, HALE ÜNVER TUHAN, KORCAN DEMİR, AYÇA AYKUT, ASUDE DURMAZ, Ünal Utku KARAARSLAN, Gözde İNCİ, Oğuz Ateş Ece BÖBER, AYHAN ABACI

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

Havva YAZICI, Ebru CANDA, Esra ER, Mehmet Arda KILINÇ, Sema KALKAN UÇAR, Bülent KARAPINAR, MAHMUT ÇOKER

Vitamin D Deficiency in Premature Infants and Its Effects on Neonatal Prognosis

Demet TEREK, Gizem ÖZCAN, Fırat ERGİN, ÖZGE ALTUN KÖROĞLU, MEHMET YALAZ, Nilgün KÜLTÜRSAY, METE AKISÜ

Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child

Ayman E. ESKANDER, Muhammad RAFİQUE, Naglaa M KAMAL, Mortada H.H. EL-SHABRAWİ, Kamel ABİDİ, Hamed A ALGHAMDİ, Abdulrahman HALABİ, Abdullah O ALHARBİ, Hala MANSOUR, Laila M SHERİEF

Siblings with Ethylmalonic Encephalopathy: Case Report

Çiğdem Seher KASAPKARA, Ayşe AKSOY, Emine POLAT, Mustafa KILIÇ, Serdar CEYLANER

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Havva YAZICI, Esra ER, Ebru CANDA, SARA HABİF, Sema KALKAN UÇAR, MAHMUT ÇOKER

Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

Sebile KILAVUZ, Fatma Derya BULUT, DENİZ KOR, Berna Şeker YILMAZ, SİBEL BAŞARAN, TUNAY SARPEL, Neslihan ÖNENLİ MUNGAN

Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience

Ebru CANDA, Havva YAZICI, Esra ER, Sema KALKAN UÇAR, HÜSEYİN ONAY, ESER YILDIRIM SÖZMEN, FERİŞTAH FERDA ÖZKINAY, MAHMUT ÇOKER

Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

Ebru CANDA, Havva YAZICI, Esra ER, Cenk ERASLAN, Sema KALKAN UÇAR, MAHMUT ÇOKER

Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child

Özge DEDEOĞLU, Çiğdem KASAPKARA, Kader KARLI OGUZ, Esma ALTINEL, Ayşe AKSOY

Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes

Mehmet GÜNDÜZ, Nevra KOÇ, ÖZLEM ÜNAL, Seyit Ahmet UÇAKTÜRK

“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 BİBEROĞLU, Alev HASANOĞLU

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Fatma Derya BULUT, Deniz KOR, Berna ŞEKER-YILMAZ, Mustafa YILMAZ, Derya Ufuk ALTINTAŞ, Serdar CEYLANER, Sebile KILAVUZ, Neslihan ÖNENLİ MUNGAN

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Ebru CANDA, Havva YAZICI, Esra ER, Cenk ERASLAN, Yasemin ATİK ALTINOK, HEPSEN MİNE SERİN, Sara HABİF, Gül SERDAROĞLU, Sema KALKAN UÇAR, HÜSEYİN ONAY, FERİŞTAH FERDA ÖZKINAY, MAHMUT ÇOKER