Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns RS Sista, AE Eckhardt, T Wang, C Graham, JL Rouse, SM Norton, ... Clinical chemistry 57 (10), 1444-1451, 2011 | 123 | 2011 |
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype‐specific manner PJ Clark, AJ Thompson, DM Vock, LE Kratz, AA Tolun, AJ Muir, ... Hepatology 56 (1), 49-56, 2012 | 90 | 2012 |
Urinary biomarkers of oxidative status in a clinical model of oxidative assault D Il'yasova, I Spasojevic, F Wang, AA Tolun, K Base, SP Young, ... Cancer Epidemiology and Prevention Biomarkers 19 (6), 1506-1510, 2010 | 80 | 2010 |
Allantoin in human urine quantified by ultra-performance liquid chromatography–tandem mass spectrometry AA Tolun, H Zhang, D Il’yasova, J Sztáray, SP Young, DS Millington Analytical biochemistry 402 (2), 191-193, 2010 | 48 | 2010 |
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium‐chain fatty acid receptor Gpr84 MK Montgomery, B Osborne, AE Brandon, L O'Reilly, CE Fiveash, ... The FASEB Journal 33 (11), 12264-12276, 2019 | 40 | 2019 |
Baseline urinary glucose tetrasaccharide concentrations in patients with infantile-and late-onset Pompe disease identified by newborn screening YH Chien, JL Goldstein, WL Hwu, PB Smith, NC Lee, SC Chiang, ... JIMD Reports, Volume 19, 67-73, 2014 | 39 | 2014 |
Individual responses to chemotherapy-induced oxidative stress D Il’yasova, K Kennedy, I Spasojevic, F Wang, AA Tolun, K Base, ... Breast cancer research and treatment 125 (2), 583-589, 2011 | 36 | 2011 |
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots AA Tolun, C Graham, Q Shi, RS Sista, T Wang, AE Eckhardt, VK Pamula, ... Molecular genetics and metabolism 105 (3), 519-521, 2012 | 32 | 2012 |
Molecular analysis and protein processing in late‐onset Pompe disease patients with low levels of acid α‐glucosidase activity DS Bali, AA Tolun, JL Goldstein, J Dai, PS Kishnani Muscle & nerve 43 (5), 665-670, 2011 | 32 | 2011 |
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) JD Sharer, I De Biase, D Matern, S Young, MJ Bennett, AA Tolun Genetics in Medicine 20 (12), 1499-1507, 2018 | 25 | 2018 |
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III B Sun, K Fredrickson, S Austin, AA Tolun, BL Thurberg, WE Kraus, D Bali, ... Molecular genetics and metabolism 108 (2), 145-147, 2013 | 22 | 2013 |
Genetic variability among Turkish pop, flint and dent corn (Zea mays L. spp. Mays) races: Enzyme polymorphism R Ilarslan, Z Kaya, AA Tolun, PK Bretting Euphytica 122 (1), 171-179, 2001 | 20 | 2001 |
Genetic structure of black pine (Pinus nigra Arnold subspecies pallasiana) populations sampled from the Bolkar Mountains AA Tolun, E Velioglu, B Çengel, Z Kaya Silvae Genetica 49 (3), 113-118, 2000 | 20 | 2000 |
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches B Ryder, M Inbar‐Feigenberg, E Glamuzina, R Halligan, R Vara, A Elliot, ... Journal of Inherited Metabolic Disease, 2021 | 17 | 2021 |
Systemic oxidative stress, as measured by urinary allantoin and F2-isoprostanes, is not increased in Down syndrome AA Tolun, PM Scarbrough, H Zhang, JA McKillop, F Wang, PS Kishnani, ... Annals of epidemiology 22 (12), 892-894, 2012 | 17 | 2012 |
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders K Bhattacharya, W Matar, AA Tolun, B Devanapalli, S Thompson, ... Orphanet journal of rare diseases 15 (1), 1-9, 2020 | 16 | 2020 |
Pattern and magnitude of genetic diversity in Pinus nigra Arnold subspecies pallasiana populations from Kazdağı: implications for in situ conservation B Cengel, E Velioğlu, AA Tolun, Z Kaya Silvae genetica 49 (6), 249-256, 2000 | 16 | 2000 |
A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism A Hertzog, A Selvanathan, B Devanapalli, G Ho, K Bhattacharya, ... Translational Pediatrics 11 (10), 1704-1716, 2022 | 8 | 2022 |
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning M Sajeev, S Chin, G Ho, B Bennetts, BP Sankaran, B Gutierrez, ... International Journal of Neonatal Screening 7 (2), 25, 2021 | 6 | 2021 |
Utility of a urinary tetrasaccharide as a biomarker for glycogen storage disease type III AA Tolun, KF Boyd, SL Austin, SM Vertilus, LE Case, SB Wechsler, ... MOLECULAR GENETICS AND METABOLISM 98 (1-2), 39-39, 2009 | 4 | 2009 |