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Adviye Ayper Tolun
Adviye Ayper Tolun
Head of Department, NSW Biochemical Genetics Service
Geverifieerd e-mailadres voor health.nsw.gov.au
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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
1232011
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
902012
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
792010
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
472010
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
392019
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
392014
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
362011
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
322012
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
322011
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
252018
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
222013
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
202001
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
202000
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
172021
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
172012
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
162020
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
162000
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
82022
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
52021
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
42009
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