| Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency S Kölker, SF Garbade, CR Greenberg, JV Leonard, JM Saudubray, ... Pediatric research 59 (6), 840-847, 2006 | 302 | 2006 |
| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 139 | 2015 |
| Newborn PKU screening in Turkey: at present and organization for future. I Ozalp, T Coşkun, A Tokatli, HS Kalkanoğlu, A Dursun, S Tokol, G Köksal, ... The Turkish journal of pediatrics 43 (2), 97-101, 2001 | 133 | 2001 |
| Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients HZ Gao, K Kobayashi, A Tabata, H Tsuge, M Iijima, T Yasuda, ... Human mutation 22 (1), 24-34, 2003 | 110 | 2003 |
| The molecular basis of familial hypercholesterolaemia in Turkish patients MM Sözen, R Whittall, C Öner, A Tokatlı, HS Kalkanoğlu, A Dursun, ... Atherosclerosis 180 (1), 63-71, 2005 | 61 | 2005 |
| Hearing loss in biotinidase deficiency: genotype-phenotype correlation HSK Sivri, GA Genç, A Tokatlı, A Dursun, T Coşkun, Hİ Aydın, ... The Journal of pediatrics 150 (4), 439-442, 2007 | 57 | 2007 |
| Mutations in the G6PC3 gene cause Dursun syndrome S Banka, WG Newman, RK Özgül, A Dursun American Journal of Medical Genetics Part A 152 (10), 2609-2611, 2010 | 56 | 2010 |
| Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism M Gokce, O Unal, B Hismi, F Gumruk, T Coskun, G Balta, S Unal, M Cetin, ... Pediatric hematology and oncology 29 (1), 92-98, 2012 | 53 | 2012 |
| Transient nonketotic hyperglycinemia: two case reports and literature review D Aliefendioğlu, T Coşkun, A Dursun, FN Çakmak, M Kesimer Pediatric neurology 28 (2), 151-155, 2003 | 49 | 2003 |
| The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary S Yarman, A Dursun, F Oguz, F ALAGÖL Endocrine journal 51 (1), 31-36, 2004 | 43 | 2004 |
| Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening M Karaca, RK Özgül, Ö Ünal, D Yücel-Yılmaz, M Kılıç, B Hişmi, A Tokatlı, ... European journal of pediatrics 174, 1077-1084, 2015 | 39 | 2015 |
| Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. FB Guven A, Cebeci N, Dursun A, Aktekin E, Baumgartner M Pediatr Diabetes. 13 (6), e22-5, 2012 | 38 | 2012 |
| Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria? H Gokmen Ozel, T Kucukkasap, G Koksal, HS Kalkanoglu Sivri, A Dursun, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2008 | 38 | 2008 |
| Audiologic findings in children with biotinidase deficiency in Turkey GA Genc, HS Sivri-Kalkanoğlu, A Dursun, HI Aydın, A Tokatlı, ... International journal of pediatric otorhinolaryngology 71 (2), 333-339, 2007 | 36 | 2007 |
| Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency M Kilic, RK Özgül, T Coşkun, D Yücel, M Karaca, HS Sivri, A Tokatli, ... JIMD Reports-Case and Research Reports, 2011/3, 17-23, 2012 | 34 | 2012 |
| Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement A Dursun, RK Ozgul, A Soydas, T Tugrul, A Gurgey, A Celiker, RJ Barst, ... Clinical Dysmorphology 18 (1), 19-23, 2009 | 33 | 2009 |
| Haematological findings in children with inborn errors of metabolism B Tavil, HSK Sivri, T Coskun, A Gurgey, E Ozyurek, A Dursun, A Tokatlı, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 32 | 2006 |
| A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation A Dursun, D Yalnizoglu, OF Gerdan, D Yucel-Yilmaz, MS Sagiroglu, ... Clinical dysmorphology 26 (1), 1-12, 2017 | 31 | 2017 |
| Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency N Kandemir, DY Yilmaz, EN Gonc, A Ozon, A Alikasifoglu, A Dursun, ... The Journal of steroid biochemistry and molecular biology 165, 57-63, 2017 | 31 | 2017 |
| A Zinc sulphate-resistant acrodermatitis enteropathica patient with a novel mutation in SLC39A4 gene M Kilic, M Taskesen, T Coskun, F Gürakan, A Tokatli, HS Sivri, A Dursun, ... JIMD Reports-Case and Research Reports, 2011/2, 25-28, 2012 | 31 | 2012 |
