| Monocarboxylate transporter 1 deficiency and ketone utilization PM van Hasselt, S Ferdinandusse, GR Monroe, JPN Ruiter, M Turkenburg, ... New England Journal of Medicine 371 (20), 1900-1907, 2014 | 112 | 2014 |
| IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α‐L‐iduronidase (IDUA) alleles F Bertola, M Filocamo, G Casati, M Mort, C Rosano, A Tylki‐Szymanska, ... Human mutation 32 (6), E2189-E2210, 2011 | 97 | 2011 |
| Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation I Okur, F Ezgu, G Biberoglu, L Tumer, Y Erten, M Isitman, FT Eminoglu, ... Gene 527 (1), 42-47, 2013 | 70 | 2013 |
| Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, ... The American Journal of Human Genetics 99 (1), 236-245, 2016 | 47 | 2016 |
| N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia CS Kasapkara, FS Ezgu, I Okur, L Tumer, G Biberoglu, A Hasanoglu European journal of pediatrics 170, 799-801, 2011 | 46 | 2011 |
| Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions FS Ezgu, N Buyan, M Gündüz, L Tümer, I Okur, A Hasanoglu European journal of pediatrics 163, 163-165, 2004 | 36 | 2004 |
| Audiologic evaluations of children with mucopolysaccharidosis Ç Gökdoğan, S Altinyay, O Gökdoğan, H Tutar, B Gündüz, I Okur, L Tümer, ... Brazilian Journal of Otorhinolaryngology 82 (03), 281-284, 2016 | 31 | 2016 |
| Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R A Hasanoglu, M Balwani, ÇS Kasapkara, FS Ezgü, İ Okur, L Tümer, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2011 | 31 | 2011 |
| Quality of life in children treated with restrictive diet for inherited metabolic disease TF Eminoglu, SA Soysal, L Tumer, I Okur, A Hasanoglu Pediatrics International 55 (4), 428-433, 2013 | 28 | 2013 |
| Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects MT Walsh, E Di Leo, I Okur, P Tarugi, MM Hussain Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2016 | 24 | 2016 |
| Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children I Okur, L Tumer, FS Ezgu, E Yesilkaya, A Aral, SO Oktar, A Bideci, ... Journal of Pediatric Endocrinology and Metabolism 26 (7-8), 657-662, 2013 | 24 | 2013 |
| 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family F Tuba Eminoglu, AA Ozcelik, I Okur, L Tumer, G Biberoglu, E Demir, ... Journal of child neurology 24 (4), 478-481, 2009 | 22 | 2009 |
| Crisponi syndrome: A new case with additional features and new mutation in CRLF1 I Okur, L Tumer, L Crisponi, FT Eminoglu, F Chiappe, P Cinaz, I Yenicesu, ... American Journal of Medical Genetics Part A 146 (24), 3237-3239, 2008 | 19 | 2008 |
| The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children A Hasanoğlu, İ Okur, AC Oren, G Biberoğlu, S Oktar, FT Eminoğlu, ... The Turkish journal of pediatrics 53 (5), 522-527, 2011 | 18 | 2011 |
| Beneficial effects of modified Atkins diet in glycogen storage disease type IIIa A Olgac, A İnci, İ Okur, G Biberoğlu, D Oğuz, FS Ezgü, ÇS Kasapkara, ... Annals of Nutrition and Metabolism 76 (4), 233-241, 2020 | 17 | 2020 |
| A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets CS Kasapkara, L Tumer, I Okur, A Hasanoglu Genetic Counseling 22 (2), 187, 2011 | 17 | 2011 |
| Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital M Gündüz, S Ünal, İ Okur, İA Sucaklı, F Güzel, N Koç The Turkish journal of pediatrics 57 (1), 45-52, 2015 | 16 | 2015 |
| Two novel deletions in hypotonia–cystinuria syndrome L Régal, HI Aydin, AM Dieltjens, H Van Esch, I Francois, I Okur, C Zeybek, ... Molecular genetics and metabolism 107 (3), 614-616, 2012 | 16 | 2012 |
| Autism: Screening of inborn errors of metabolism and unexpected results A İnci, A Özaslan, I Okur, G Biberoğlu, E Güney, FS Ezgü, L Tümer, E İşeri Autism Research 14 (5), 887-896, 2021 | 15 | 2021 |
| Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray F Ezgu, A Hasanoglu, I Okur, G Biberoglu, L Tumer, T Eminoglu, H Dogan Blood cells, molecules & diseases 40 (2), 246-247, 2008 | 15 | 2008 |
