| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients C Staufner, B Peters, M Wagner, S Alameer, I Barić, P Broué, D Bulut, ... Genetics in Medicine 22 (3), 610-621, 2020 | 60 | 2020 |
| Can untreated PKU patients escape from intellectual disability? A systematic review D Van Vliet, AMJ van Wegberg, K Ahring, M Bik-Multanowski, N Blau, ... Orphanet journal of rare diseases 13 (1), 1-6, 2018 | 57 | 2018 |
| Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey B Seker Yilmaz, NO Mungan, D Kor, D Bulut, G Seydaoglu, M Öktem, ... Journal of Pediatric Endocrinology and Metabolism 31 (3), 339-343, 2018 | 17 | 2018 |
| Impaired glucose tolerance in Fanconi-Bickel syndrome: eight patients with two novel mutations B Şeker-Yılmaz, D Kör, F BULUT, B Yüksel, A Karabay-Bayazıt, ... Turkish Journal of Pediatrics 59 (4), 2017 | 14 | 2017 |
| Mutations within the transcription factor PROP1 in a cohort of Turkish patients with combined pituitary hormone deficiency FD Bulut, SÖ Dilek, D Kotan, E Mengen, F Gürbüz, B Yüksel Journal of Clinical Research in Pediatric Endocrinology 12 (3), 261, 2020 | 9 | 2020 |
| Congenital erythropoietic porphyria with erythrodontia: A case report V Ciftci, S Kılavuz, FD Bulut, HN Mungan, A Bisgin, MC Dogan International journal of paediatric dentistry 29 (4), 542-548, 2019 | 9 | 2019 |
| Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose D Kör, BŞ Yılmaz, FD Bulut, S Ceylaner, NÖ Mungan Journal of Pediatric Endocrinology and Metabolism 30 (7), 713-718, 2017 | 9 | 2017 |
| Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations D Kor, B Seker-Yilmaz, F Bulut, S Kilavuz, M Oktem, S Ceylaner, ... Turkish Journal Of Pediatrics 61 (3), 2019 | 7 | 2019 |
| A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation E Sarigecili, FD Bulut, O Anlas Clinical neurology and neurosurgery 218, 107283, 2022 | 6 | 2022 |
| Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey FD Bulut, D Kör, B Şeker-Yılmaz, Ö Hergüner, S Ceylaner, F Özkınay, ... Metabolic Brain Disease 33, 1223-1227, 2018 | 6 | 2018 |
| Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey S Kilavuz, D Kor, FD Bulut, M Serbes, D Karagoz, DU Altıntas, A Bisgin, ... Archives de Pédiatrie 29 (6), 415-423, 2022 | 5 | 2022 |
| Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series S Kılavuz, S Basaran, D Kor, FD Bulut, S Erdem, HT Ballı, M Dağkıran, ... Orphanet Journal of Rare Diseases 16 (1), 1-10, 2021 | 5 | 2021 |
| Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency FD Bulut, D Kör, B Şeker-Yılmaz, G Gül-Mert, S Kılavuz, N Önenli-Mungan Metabolic Brain Disease 33, 977-979, 2018 | 5 | 2018 |
| MyD 88 polymorphisms in children diagnosed with sepsis SS Gökay, RD YILDIZDAŞ, M Yilmaz, K Aksoy, AE Yalin, Y Sertdemir, ... Balkan Medical Journal 33 (6), 633-638, 2016 | 5 | 2016 |
| The outcome of 41 late-diagnosed Turkish GA-1 patients: a candidate for the Turkish NBS S Kılavuz, D Bulut, D Kor, B Şeker-Yılmaz, N Özcan, F Incecik, B Onan, ... Neuropediatrics 52 (05), 358-369, 2021 | 4 | 2021 |
| Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia BŞ YILMAZ, D KÖR, FD Bulut, S Kilavuz, S Ceylaner, HNÖ Mungan Turkish journal of medical sciences 51 (3), 1220-1228, 2021 | 4 | 2021 |
| Demographic, phenotypic and genotypic features of alkaptonuria patients: a single centre experience S Kılavuz, FD Bulut, D Kör, BŞ Yılmaz, S Başaran, T Sarpel, NÖ Mungan The Journal of Pediatric Research 5 (1), 7, 2018 | 4 | 2018 |
| A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI. D Kör, FD Bulut, U Altıntaş Journal of Investigational Allergology & Clinical Immunology 26 (2), 130-132, 2016 | 4 | 2016 |
| Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis FD Bulut, NE Bozbulut, Ö Özalp, B Dalgiç, NÖ Mungan, H Koç Uçar, ... Journal of Pediatric Endocrinology and Metabolism 35 (5), 681-685, 2022 | 3 | 2022 |
| An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency E Melek, FD Bulut, B Atmış, BŞ Yılmaz, AK Bayazıt, NÖ Mungan Journal of Pediatric Endocrinology and Metabolism 30 (2), 237-239, 2017 | 3 | 2017 |
