DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA: DNA synthesis P Starokadomskyy, T Gemelli, JJ Rios, C Xing, RC Wang, H Li, ... Nature immunology 17 (5), 495-504, 2016 | 146 | 2016 |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases R Posset, SF Garbade, N Boy, AB Burlina, C Dionisi‐Vici, D Dobbelaere, ... Journal of inherited metabolic disease 42 (1), 93-106, 2019 | 45 | 2019 |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: on the basis of information from a European multicenter registry F Molema, F Gleich, P Burgard, AT Van Der Ploeg, ML Summar, ... Journal of inherited metabolic disease 42 (6), 1162-1175, 2019 | 36 | 2019 |
Early prediction of phenotypic severity in citrullinemia type 1 M Zielonka, S Kölker, F Gleich, N Stützenberger, SCS Nagamani, ... Annals of clinical and translational neurology 6 (9), 1858-1871, 2019 | 36 | 2019 |
Molecular genetics and genotype-based estimation of BH4-responsiveness in Serbian PKU patients: spotlight on phenotypic implications of p. L48S M Djordjevic, K Klaassen, A Sarajlija, N Tosic, B Zukic, B Kecman, ... JIMD Reports–Case and Research Reports, 2012/6, 49-58, 2013 | 35 | 2013 |
Health-related quality of life and depression in Rett syndrome caregivers A Sarajlija, M Đurić, TD Kisić Vojnosanitetski pregled 70 (9), 842-847, 2013 | 35 | 2013 |
Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II L Dvorakova, H Vlaskova, A Sarajlija, DP Ramadza, H Poupetova, ... Clinical genetics 91 (5), 787-796, 2017 | 31 | 2017 |
Clinical characteristics of respiratory syncytial virus infection in neonates and young infants N Savić, B Janković, P Minić, Z Vasiljević, A Sovtić, K Pejić, A Sarajlija, ... Vojnosanitetski pregled 68 (3), 220-224, 2011 | 28 | 2011 |
Assessment of health status and quality of life of homeless persons in Belgrade, Serbia M Sarajlija, A Jugović, D Živaljević, B Merdović, A Sarajlija Vojnosanitetski pregled 71 (2), 2014 | 27 | 2014 |
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of … F Molema, F Gleich, P Burgard, AT Van Der Ploeg, ML Summar, ... Molecular genetics and metabolism 126 (4), 397-405, 2019 | 26 | 2019 |
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants A Skakic, M Djordjevic, A Sarajlija, K Klaassen, N Tosic, B Kecman, ... Clinical genetics 93 (2), 350-355, 2018 | 22 | 2018 |
Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival A Sarajlija, D Kisic-Tepavcevic, Z Nikolic, D Savic Pavicevic, S Obradovic, ... Neuroepidemiology 44 (1), 1-5, 2015 | 20 | 2015 |
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype L Kulikovskaja, A Sarajlija, D Savic-Pavicevic, V Dobricic, C Klein, ... Neurology: Genetics 4 (2), e227, 2018 | 17 | 2018 |
Vitamin D deficiency in Serbian patients with Rett syndrome A Sarajlija, M Djuric, DK Tepavcevic, S Grkovic, M Djordjevic The Journal of Clinical Endocrinology & Metabolism 98 (12), E1972-E1978, 2013 | 16 | 2013 |
Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib A Sarajlija, M Djordjevic, B Kecman, A Skakic, S Pavlovic, S Pasic, ... European Journal of Medical Genetics 63 (3), 103767, 2020 | 13 | 2020 |
Molecular and phenotypic characteristics of seven novel mutations causing branched‐chain organic acidurias M Stojiljkovic, K Klaassen, M Djordjevic, A Sarajlija, S Brasil, B Kecman, ... Clinical genetics 90 (3), 252-257, 2016 | 12 | 2016 |
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature C Aguilera, M Viñas-Jornet, N Baena, E Gabau, C Fernández, ... BMC Medical Genetics 18, 1-7, 2017 | 8 | 2017 |
Late‐presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency A Sarajlija, M Magner, M Djordjevic, B Kecman, B Grujic, M Tesarova, ... Congenital Anomalies 57 (2), 64-65, 2017 | 5 | 2017 |
Early presentation of Hyperinsulinism/Hyperammonemia syndrome in three Serbian patients A Sarajlija, T Milenkovic, M Djordjevic, K Mitrovic, S Todorovic, B Kecman, ... Journal of Clinical Research in Pediatric Endocrinology 8 (2), 228, 2016 | 5 | 2016 |
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction R Vukovic, T Milenkovic, M Djordjevic, K Mitrovic, S Todorovic, A Sarajlija, ... Journal of Pediatric Endocrinology and Metabolism 30 (7), 791-795, 2017 | 4 | 2017 |