Single center experience of biotinidase deficiency: 259 patients and six novel mutations E Canda, H Yazici, E Er, M Kose, G Basol, H Onay, SK Ucar, S Habif, ... Journal of Pediatric Endocrinology and Metabolism 31 (8), 917-926, 2018 | 38 | 2018 |
Tetrahydrobiopterin deficiencies: Lesson from clinical experience AE Bozaci, E Er, H Yazici, E Canda, S Kalkan Uçar, M Güvenc Saka, ... JIMD reports 59 (1), 42-51, 2021 | 8 | 2021 |
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis MÇ Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan ... Journal of Pediatric Research 5 (1), 12, 2018 | 5* | 2018 |
Clinical Features of 29 Patients with Hereditary Tyrosinemia 1 in Western Turkey E Er, E Canda, S Habif, SK Uçar, M Çoker | 4 | 2018 |
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria MÇ Ebru Canda, Melis Köse, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan ... Journal of Pediatric Research 5 (Inherited Metabolic Diseases Special Iss …, 2018 | 4 | 2018 |
Mild aromatic L-amino acid decarboxylase deficiency: as a reason for Hypoketotic hypoglycemia in a 4-year-old girl MY Celik, E Canda, H Yazici, F Erdem, AY Yanbolu, A Aykut, A Durmaz, ... Journal of clinical research in pediatric endocrinology, 2022 | 3 | 2022 |
Two siblings with galactose mutarotase deficiency: Clinical differences H Yazici, E Canda, YA Altınok, SK Ucar, M Coker JIMD reports 63 (1), 25-28, 2022 | 3 | 2022 |
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone E Canda, E Er, MA Kılınç, SK Uçar, B Karapınar, M Çoker The Journal of Pediatric Research 5 (1), 57, 2018 | 3 | 2018 |
Clinical spectrum of early onset “Mediterranean”(homozygous p. P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy S Kalkan Uçar, H Yazıcı, E Canda, E Er, FD Bulut, C Eraslan, H Onay, ... JIMD reports 63 (5), 484-493, 2022 | 2 | 2022 |
Severe perinatal hypophosphatasia case with a novel mutation H Yazicia, E Candaa, SK Ucara, M Cokera Archivos argentinos de pediatria 120 (1), E21-E24, 2022 | 2 | 2022 |
Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis MÇ Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok ... The Journal of Pediatric Research 5 (1), 60-62, 2018 | 2 | 2018 |
Clinical, biochemical and molecular characteristics of fifteen patients with mucopolysaccharidosis type II in Western Turkey H Yazıcı, E Canda, E Er, SK Uçar, H Onay, F Özkınay, M Çoker | 2 | 2018 |
A Metabolism Perspective on Pediatric Rhabdomyolysis Y H, S Kalkan Uçar TRENDS IN PEDIATRICS 2 (4), 147-153, 0 | 2* | |
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG M Yoldas Celik, H Yazici, F Erdem, A Yuksel Yanbolu, A Aykut, A Durmaz, ... Journal of Pediatric Endocrinology and Metabolism 36 (6), 530-538, 2023 | 1 | 2023 |
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency E Canda, H Onay, SK Uçar, S Habif, M Çoker The Turkish Journal of Pediatrics 64 (5), 946-950, 2022 | 1 | 2022 |
Long-term follow-up of alkaptonuria patients: single center experience AE Bozaci, H Yazici, E Canda, SK Uçar, MS Guvenc, A Berdeli, S Habif, ... Journal of Pediatric Endocrinology and Metabolism 35 (7), 913-923, 2022 | 1 | 2022 |
Coexistencia infrecuente de la enfermedad de Tay-Sachs, coartación aórtica y reflujo vesicoureteral de grado V MQ Karataf, H Yazici, A Bozaci, E Canda, E Levent, SK Uqar, M Qoker Archivos argentinos de pediatría 120 (1), 131-140, 2022 | 1 | 2022 |
Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux MÇ Karataşa, H Yazıcıb, AE Bozacıb, E Candab, E Leventc, SK Uçarb, ... Acceso abiert, 22, 2020 | 1 | 2020 |
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience T Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut ... The Journal of Pediatric Research 5 (1), 28, 2018 | 1 | 2018 |
Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity … YA Altınok, Y Mansuroglu, E Canda, MY Çelik, F Erdem, AY Yanbolu, ... Journal of Inherited Metabolic Disease, 2024 | | 2024 |