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Articles from The Journal of Pediatric Research (March 1, 2018)

1-27 out of 27 article(s)
Title Author Type Words
"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages. Olgac, Asburce; Tumer, Leyla; Ceylaner, Serdar; Biberoglu, Gursel; Hasanoglu, Alev Clinical report 2075
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome. Bulut, Fatma Derya; Kor, Deniz; Yilmaz, Berna Seker; Yilmaz, Mustafa; Altintas, Derya Ufuk; Ceylaner Clinical report 1493
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis. Er, Esra; Canda, Ebru; Yazici, Havva; Eraslan, Cenk; Sozmen, Eser; Ucar, Sema Kalkan; Coker, Mahmut Report 2756
Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey. Yazici, Havva; Er, Esra; Canda, Ebru; Habif, Sara; Ucar, Sema Kalkan; Coker, Mahmut Report 3456
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience. Canda, Ebru; Yazici, Havva; Er, Esra; Eraslan, Cenk; Ucar, Sema Kalkan; Coker, Mahmut Report 3931
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey. Yazici, Havva; Canda, Ebru; Er, Esra; Ucar, Sema Kalkan; Onay, Huseyin; Ozkinay, Ferda; Coker, Mahmu Report 3221
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria. Canda, Ebru; Kose, Melis; Yazici, Havva; Er, Esra; Eraslan, Cenk; Ucar, Sema Kalkan; Habif, Sara; Ka Report 2832
Congenital Penil Lymphedema in a Preterm Neonate. Hamilcikan, Sahin; Can, Emrah Clinical report 1331
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience. Kilavuz, Sebile; Bulut, Fatma Derya; Kor, Deniz; Yilmaz, Berna Seker; Basaran, Sibel; Sarpel, Tunay; Report 3012
Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes. Gunduz, Mehmet; Koc, Nevra; Unal, Ozlem; Ucakturk, Seyit Ahmet Clinical report 1397
Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C. Acar, Sezer; Tuhan, Hale; Demir, Korcan; Aykut, Ayca; Durmaz, Asude; Karaarslan, Unal Utku; Inci, Go Clinical report 2484
Evaluation of Children with Congenital Heart Disease Hospitalized with the Diagnosis of Lower Respiratory Tract Infection. Sahan, Yasemin Ozdemir; Kilicoglu, Erhan; Tutar, Zulal Ulger Report 3074
False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor. Sozmen, Eser Yildirim; Dondurmaci, Meral; Ucar, Sema Kalkan; Coker, Mahmut Report 2650
Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis. Canda, Ebru; Yazici, Havva; Er, Esra; Eraslan, Cenk; Altinok, Yasemin Atik; Serin, Hepsen Mine; Habi Clinical report 1945
Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience. Canda, Ebru; Yazici, Havva; Er, Esra; Ucar, Sema Kalkan; Onay, Huseyin; Sozmen, Eser; Ozkinay, Ferda Report 4134
Lip and Face Edema Due to Face Presentation. Ozdemir, Hulya; Ozturk, Merve; Bilgen, Hulya; Ozek, Eren Clinical report 1063
Music Listening Intervention vs Local Anaesthetic Cream for Pain Management in Infants Undergoing Venepuncture: A Collaborative Trans-Disciplinary Research. Beh, Wen Fen; Hashim, Mohd Nasir; Tan, Wan Ju; Latiff, Zarina Abdul Report 8143
Nasal heterotopy in a Newborn Infant: A Case Report. Kaya, Tugba Barsan; Kose, Ayse Aydan; Tekin, Ayse Neslihan Clinical report 1689
Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child. Kamal, Naglaa M.; Alghamdi, Hamed A.; Halabi, Abdulrahman; Alharbi, Abdullah O.; Rafque, Muhammad; A Clinical report 1660
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. Molavi-Taleghani, Yasamin; Abdollhayar, Asma; Nekoei-Moghadam, Mahmoud; Sheikhbardsiri, Hojjat Report 8147
Severe Metabolic Acidosis and Pulmonary Edema: A Near-Drowning Case. Coban, Yasemin; Davutoglu, Mehmet Clinical report 1950
Siblings with Ethylmalonic Encephalopathy: Case Report. Kasapkara, Cigdem Seher; Aksoy, Ayse; Polat, Emine; Kilic, Mustafa; Ceylaner, Serdar Clinical report 1427
Successful Management of Ornithine Transcarbamylase Defciency Presenting with Reversible Metabolic Stroke in a Child. Dedeoglu, Ozge; Kasapkara, Cigdem; Oguz, Kader Karli; Altinel, Esma; Aksoy, Ayse Clinical report 1748
The Surgical Management Strategies in Congenital Pulmonary Airway Malformations: According to the Location of the Pulmonary Involvement. Divarci, Emre; Toker, Bade; Dokumcu, Zafer; Ozcan, Coskun; Erdener, Ata Report 2046
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone. Yazici, Havva; Canda, Ebru; Er, Esra; Kilinc, Mehmet Arda; Ucar, Sema Kalkan; Karapinar, Bulent; Cok Clinical report 1724
Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey. Dogan, Ozlem Akgun; Topcu, Seda; Tanir, Naciye Gonul Report 3786
Vitamin D Deficiency in Premature Infants and Its Effects on Neonatal Prognosis. Terek, Demet; Ozcan, Gizem; Ergin, Firat; Koroglu, Ozge Altun; Yalaz, Mehmet; Akisu, Mete; Kultursay Report 2784

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