Management of phenylketonuria in Europe: survey results from 19 countries N Blau, A Bélanger-Quintana, M Demirkol, F Feillet, M Giovannini, ... Molecular genetics and metabolism 99 (2), 109-115, 2010 | 161 | 2010 |
The metabolic map into the pathomechanism and treatment of PGM1-CDG S Radenkovic, MJ Bird, TL Emmerzaal, SY Wong, C Felgueira, KM Stiers, ... The American Journal of Human Genetics 104 (5), 835-846, 2019 | 81 | 2019 |
TMEM70 deficiency: long‐term outcome of 48 patients M Magner, V Dvorakova, M Tesarova, S Mazurova, H Hansikova, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 75 | 2015 |
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 |
Literature review and outcome of classic galactosemia diagnosed in the neonatal period. N Karadag, A Zenciroglu, FT Eminoglu, D Dilli, BS Karagol, A Kundak, ... Clinical Laboratory 59 (9-10), 1139-1146, 2013 | 64 | 2013 |
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 J Nakajima, TF Eminoglu, G Vatansever, M Nakashima, Y Tsurusaki, ... Journal of human genetics 59 (4), 229-232, 2014 | 35 | 2014 |
Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation FK Eroglu, F Ozaltin, N Gönç, H Nalçacıoğlu, ZB Özçakar, D Yalnızoğlu, ... Pediatric neurology 88, 71-74, 2018 | 32 | 2018 |
Factors related to non-alcoholic fatty liver disease in obese children. TF Eminoğlu, OM Çamurdan, SO Oktar, A Bideci, B Dalgic The Turkish Journal of Gastroenterology: The Official Journal of Turkish …, 2008 | 32 | 2008 |
Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies P Haznedar, Ö Doğan, P Albayrak, GÖ Tunçer, S Teber, G Deda, ... Epilepsy research 153, 7-13, 2019 | 31 | 2019 |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation Z Barış, T Eminoğlu, B Dalgıç, L Tümer, A Hasanoğlu European journal of pediatrics 169, 1375-1378, 2010 | 30 | 2010 |
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 |
Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation TF Eminoglu, E Polat, S Gökçe, FS Ezgü, S Senel, S Apaydin The Indian Journal of Pediatrics 80, 502-504, 2013 | 25 | 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 |
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 |
Undiagnosed phenylketonuria can exist everywhere: Results from an international survey AMJ van Wegberg, F Trefz, M Gizewska, S Ahmed, L Chabraoui, MS Zaki, ... The Journal of Pediatrics 239, 231-234. e2, 2021 | 13 | 2021 |
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray TF Eminoglu, FS Ezgu, A Hasanoglu, L Tumer Gene 518 (2), 346-350, 2013 | 12 | 2013 |
Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide TF Eminoglu, L Tumer, I Okur, FS Ezgu, G Biberoglu, A Hasanoglu Forensic science international 210 (1-3), e1-e3, 2011 | 12 | 2011 |
A novel PUS1 mutation in 2 siblings with MLASA syndrome: a review of the literature U Oncul, E Unal-Ince, Z Kuloglu, S Teber-Tiras, G Kaygusuz, FT Eminoglu Journal of Pediatric Hematology/Oncology 43 (4), e592-e595, 2021 | 11 | 2021 |