Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients
Kayıkçıoğlu, Meral, Özbay, Benay, Yağmur, Burcu, Canda, Ebru, Bayraktaroğlu, Selen, Şimşek, Evrim, Kalkan Uçar, Sema
Published in Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir (01.10.2022)
Published in Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir (01.10.2022)
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Journal Article
Biotinidase Deficiency: Prevalence, Impact And Management Strategies
Canda, Ebru, Kalkan Uçar, Sema, Çoker, Mahmut
Published in Pediatric health, medicine and therapeutics (01.01.2020)
Published in Pediatric health, medicine and therapeutics (01.01.2020)
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Journal Article
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
Onay, Hüseyin, Bolat, Hilmi, Kılıç Yıldırım, Gonca, Kose, Engin, Kalkan Uçar, Sema, Aşıkovalı, Semih, Özkınay, Ferda, Çoker, Mahmut
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
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Journal Article
Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels
Canbay, Erhan, Sezer, Ebru, Canda, Ebru, Yazıcı, Havva, Kalkan Uçar, Sema, Çoker, Mahmut, Yildirim Sözmen, Eser
Published in ACS omega (20.02.2024)
Published in ACS omega (20.02.2024)
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Journal Article
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl
Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Yanbolu, Ayse Yuksel, Aykut, Ayca, Durmaz, Asude, Anik, Ahmet, Ucar, Sema Kalkan, Coker, Mahmut
Published in Journal of clinical research in pediatric endocrinology (01.09.2024)
Published in Journal of clinical research in pediatric endocrinology (01.09.2024)
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Journal Article
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
Bax, Bridget E, Levene, Michelle, Bain, Murray D, Fairbanks, Lynette D, Filosto, Massimiliano, Kalkan Uçar, Sema, Klopstock, Thomas, Kornblum, Cornelia, Mandel, Hanna, Rahman, Shamima, Roubertie, Agathe, Scarpelli, Mauro, Sedgwick, Philip M, Baru, Moshe, Sellos-Moura, Marcia, Price, Jeanie, Horn, Patrick, Nirmalananthan, Niranjanan
Published in Journal of clinical medicine (24.07.2019)
Published in Journal of clinical medicine (24.07.2019)
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Journal Article
Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine
Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Ucar, Sema Kalkan, Coker, Mahmut
Published in The journal of pediatric research (01.12.2022)
Published in The journal of pediatric research (01.12.2022)
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Journal Article
COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience
Yoldaş Çelik, Merve, Canda, Ebru, Yazıcı, Havva, Erdem, Fehime, Yazıcı Özkaya, Pınar, Bal Sahbudak, Zumrut, Kalkan Uçar, Sema, Çoker, Mahmut
Published in Turkish archives of pediatrics (01.05.2023)
Published in Turkish archives of pediatrics (01.05.2023)
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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
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy
Kipper, Karin, Hecht, Max, Antunes, Natalicia J, Fairbanks, Lynette D, Levene, Michelle, Kalkan Uçar, Sema, Schaefer, Andrew, Blakely, Emma L, Bax, Bridget E
Published in Journal of clinical medicine (13.03.2020)
Published in Journal of clinical medicine (13.03.2020)
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Journal Article
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
Kose, Melis, Canda, Ebru, Kagnici, Mehtap, Aykut, Ayça, Adebali, Ogün, Durmaz, Asude, Bircan, Aylin, Diniz, Gulden, Eraslan, Cenk, Kose, Engin, Ünalp, Aycan, Yılmaz, Ünsal, Ozyilmaz, Berk, Özdemir, Taha Reşid, Atik, Tahir, Uçar, Sema Kalkan, McFarland, Robert, Taylor, Robert W., Brown, Garry K., Çoker, Mahmut, Özkınay, Ferda
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Journal Article
Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients
Kalkan Uçar, Sema, Sozmen, Eser, Duman, Soner, Başçi, Ali, Çoker, Mahmut
Published in Therapeutic apheresis and dialysis (01.12.2012)
Published in Therapeutic apheresis and dialysis (01.12.2012)
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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
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 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
Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis
Canda, Ebru, Kose, Melis, Kagnici, Mehtap, Dondurmaci, Meral, Ucar, Sema Kalkan, Sozmen, Eser, Levent, Resit Erturk, Coker, Mahmut
Published in The journal of pediatric research (01.06.2019)
Published in The journal of pediatric research (01.06.2019)
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Journal Article