A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
Cavusoglu, Dilek, Kose, Melis, Er, Esra, Elmas, Muhsin, Gencpinar, Pinar, Dundar, Nihal Olgaç, Aydin, Kursad
Published in Brain & development (Tokyo. 1979) (01.10.2022)
Published in Brain & development (Tokyo. 1979) (01.10.2022)
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Journal Article
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey
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
Published in Neurological sciences (01.03.2021)
Published in Neurological sciences (01.03.2021)
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Journal Article
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
Bozaci, Ayse Ergül, Er, Esra, Ünal, Aysel Tekmenuray, Taş, İbrahim, Ayaz, Ercan, Ozbek, Mehmet Nuri, Durmaz, Asude, Aykut, Ayçe, Kose, Melis
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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Journal Article
Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Kalkan Uçar, Sema, Yazıcı, Havva, Canda, Ebru, Er, Esra, Bulut, Fatma Derya, Eraslan, Cenk, Onay, Hüseyin, Bax, Bridget Elizabeth, Çoker, Mahmut
Published in JIMD reports (01.09.2022)
Published in JIMD reports (01.09.2022)
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Journal Article
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
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
Published in JIMD reports (01.05.2021)
Published in JIMD reports (01.05.2021)
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Journal Article
A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
Yazıcı, Havva, Canda, Ebru, Er, Esra, Malbora, Barış, Öztürk Hismi, Burcu, Onay, Hüseyin, Aksoylar, Serap, Kalkan Uçar, Sema, Özkınay, Ferda, Çöker, MAhmut
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.01.2021)
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.01.2021)
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Journal Article
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
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
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
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
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, Karaca, Emin, Onay, Huseyin, Ozkinay, Ferda, Coker, Mahmut
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
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, Mahmut
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
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, Habif, Sara, Serdaroglu, Gul, Ucar, Sema Kalkan, Onay, Huseyin, Ozkinay, Ferda, Coker, Mahmut
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
Single center experience of biotinidase deficiency: 259 patients and six novel mutations
Canda, Ebru, Yazici, Havva, Er, Esra, Kose, Melis, Basol, Gunes, Onay, Huseyin, Ucar, Sema Kalkan, Habif, Sara, Ozkinay, Ferda, Coker, Mahmut
Published in Journal of Pediatric Endocrinology & Metabolism (28.08.2018)
Published in Journal of Pediatric Endocrinology & Metabolism (28.08.2018)
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Journal Article
Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma
Çetinarslan, Tubanur, Yazıcı, Havva, Erdoğan, Kadri Murat, Kalkan Uçar, Sema, Dalgıç, Göksu, Kaya, Gizem, Er, Esra, Bilaç, Cemal, Temiz, Peyker, Türel Ermertcan, Aylin, Fölster-Holst, Regina
Published in Pediatric dermatology (17.06.2024)
Published in Pediatric dermatology (17.06.2024)
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Journal Article
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form
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
Published in Journal of Pediatric Endocrinology and Metabolism (29.01.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (29.01.2024)
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Journal Article
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
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
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2019)
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2019)
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Journal Article
Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)
Er, Esra, Canda, Ebru, Kalkan Uçar, Sema, Sözmen, Eser, Çoker, Mahmut
Published in The journal of pediatric research (15.06.2016)
Published in The journal of pediatric research (15.06.2016)
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Journal Article