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Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
Published in:
Neurological Sciences, 2021, v. 42, n. 3, p. 1103, doi. 10.1007/s10072-021-05067-8
By:
- Kose, Melis;
- Kose, Engin;
- Ünalp, Aycan;
- Yılmaz, Ünsal;
- Edizer, Selvinaz;
- Tekin, Hande Gazeteci;
- Karaoğlu, Pakize;
- Özdemir, Taha Reşid;
- Er, Esra;
- Onay, Hüseyin;
- Yildirim, Eser Sozmen
Publication type:
Article
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 1, p. 33, doi. 10.1515/jpem-2023-0298
By:
- Yazıcı, Havva;
- Ak, Gunes;
- Çelik, Merve Yoldas;
- Erdem, Fehime;
- Yanbolu, Ayse Yuksel;
- Er, Esra;
- Bozacı, Ayse Ergül;
- Güvenç, Merve Saka;
- Aykut, Ayca;
- Durmaz, Asude;
- Canda, Ebru;
- Uçar, Sema Kalkan;
- Çoker, Mahmut
Publication type:
Article
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 7, p. 675, doi. 10.1515/jpem-2018-0457
By:
- Teke Kisa, Pelin;
- Kose, Melis;
- Unal, Ozlem;
- Er, Esra;
- Hismi, Burcu Ozturk;
- Bulbul, Fatma Selda;
- Kose, Engin;
- Gunduz, Mehmet;
- Canda, Ebru;
- Kucukcongar, Aynur;
- Arslan, Nur
Publication type:
Article
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 8, p. 917, doi. 10.1515/jpem-2018-0148
By:
- Canda, Ebru;
- Yazici, Havva;
- Er, Esra;
- Kose, Melis;
- Basol, Gunes;
- Onay, Huseyin;
- Ucar, Sema Kalkan;
- Habif, Sara;
- Ozkinay, Ferda;
- Coker, Mahmut
Publication type:
Article
Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 484, doi. 10.1002/jmd2.12315
By:
- Kalkan Uçar, Sema;
- Yazıcı, Havva;
- Canda, Ebru;
- Er, Esra;
- Bulut, Fatma Derya;
- Eraslan, Cenk;
- Onay, Hüseyin;
- Bax, Bridget Elizabeth;
- Çoker, Mahmut
Publication type:
Article
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 42, doi. 10.1002/jmd2.12199
By:
- Bozaci, Ayse Ergul;
- Er, Esra;
- Yazici, Havva;
- Canda, Ebru;
- Kalkan Uçar, Sema;
- Güvenc Saka, Merve;
- Eraslan, Cenk;
- Onay, Hüseyin;
- Habif, Sara;
- Thöny, Beat;
- Coker, Mahmut
Publication type:
Article
META-SYNTHESIS ANALYSIS OF TREND RESEARCHES IN THE FIELD OF TEACHING TURKISH TO FOREIGNERS.
Published in:
International Journal of Language Academy, 2024, v. 12, n. 1, p. 196, doi. 10.29228/ijla.75043
By:
- AKAN, Elif;
- ER, Esra;
- ULAŞ, A. Halim
Publication type:
Article
Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 60, doi. 10.4274/jpr.85530
By:
- Canda, Ebru;
- Yazıcı, Havva;
- Er, Esra;
- Eraslan, Cenk;
- Altınok, Yasemin Atik;
- Serin, Hepsen Mine;
- Habif, Sara;
- Serdaroðlu, Gül;
- Uçar, Sema Kalkan;
- Onay, Hüseyin;
- Özkýnay, Ferda;
- Çoker, Mahmut
Publication type:
Article
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 57, doi. 10.4274/jpr42275
By:
- Yazıcı, Havva;
- Canda, Ebru;
- Er, Esra;
- Kılınç, Mehmet Arda;
- Uçar, Sema Kalkan;
- Karapınar, Bülent;
- Çoker, Mahmut
Publication type:
Article
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 39, doi. 10.4274/jpr.59454
By:
- Canda, Ebru;
- Köse, Melis;
- Yazıcı, Havva;
- Er, Esra;
- Eraslan, Cenk;
- Uçar, Sema Kalkan;
- Habif, Sara;
- Karaca, Emin;
- Onay, Hüseyin;
- Özkınay, Ferda;
- Çoker, Mahmut
Publication type:
Article
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 34, doi. 10.4274/jpr.36025
By:
- Yazıcı, Havva;
- Canda, Ebru;
- Er, Esra;
- Uçar, Sema Kalkan;
- Onay, Hüseyin;
- Özkınay, Ferda;
- Çoker, Mahmut
Publication type:
Article
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 28, doi. 10.4274/jpr.52244
By:
- Canda, Ebru;
- Yazıcı, Havva;
- Er, Esra;
- Eraslan, Cenk;
- Uçar, Sema Kalkan;
- Çoker, Mahmut
Publication type:
Article
Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 22, doi. 10.4274/jpr.75046
By:
- Canda, Ebru;
- Yazıcı, Havva;
- Er, Esra;
- Uçar, Sema Kalkan;
- Onay, Hüseyin;
- Sözmen, Eser;
- Özkınay, Ferda;
- Çoker, Mahmut
Publication type:
Article
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 12, doi. 10.4274/jpr.87609
By:
- Er, Esra;
- Canda, Ebru;
- Yazıcı, Havva;
- Eraslan, Cenk;
- Sözmen, Eser;
- Uçar, Sema Kalkan;
- Çoker, Mahmut
Publication type:
Article
Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 1, doi. 10.4274/jpr.00710
By:
- Yazıcı, Havva;
- Er, Esra;
- Canda, Ebru;
- Habif, Sara;
- Uçar, Sema Kalkan;
- Çoker, Mahmut
Publication type:
Article
Mukopolisakkaridoz Tip VI (Maroteaux-Lamy Sendromu) Tanılı Hastalarda Klinik Deneyim.
Published in:
Journal of Pediatric Research, 2016, v. 3, n. 2, p. 82, doi. 10.4274/jpr.47450
By:
- Er, Esra;
- Canda, Ebru;
- Uçar, Sema Kalkan;
- Sözmen, Eser;
- Çoker, Mahmut
Publication type:
Article
A Mortal Complication in a Case with ID Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage.
Published in:
Journal of Dr. Behcet Uz Children's Hospital, 2021, v. 11, n. 2, p. 198, doi. 10.5222/buchd.2021.26539
By:
- Yazıcı, Havva;
- Canda, Ebru;
- Er, Esra;
- Malbora, Barış;
- Hismi, Burcu Öztürk;
- Onay, Hüseyin;
- Aksoylar, Serap;
- Uçar, Sema Kalkan;
- Özkinay, Ferda;
- Çoker, Mahmut
Publication type:
Article
Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?
Published in:
Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 2, p. 115, doi. 10.5222/buchd.2018.115
By:
- CANDA, Ebru;
- YAZICI, Havva;
- ER, Esra;
- KALKAN UÇAR, Sema;
- GEMPERLE-BRITSCHGI, Corinne;
- HABİF, Sara;
- ONAY, Hüseyin;
- SASS, Jörn Oliver;
- ÇOKER, Mahmut
Publication type:
Article

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