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Montgomery, Magdalene K, Osborne, Brenna, Brandon, Amanda E, O'Reilly, Liam, Fiveash, Corrine E, Brown, Simon H J, Wilkins, Brendan P, Samsudeen, Azrah, Yu, Josephine, Devanapalli, Beena, Hertzog, Ashley, Tolun, Adviye A, Kavanagh, Tomas, Cooper, Antony A, Mitchell, Todd W, Biden, Trevor J, Smith, Nicola J, Cooney, Gregory J, Turner, Nigel
Published in The FASEB journal (01.11.2019)
Published in The FASEB journal (01.11.2019)
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Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Sharer, J. Daniel, De Biase, Irene, Matern, Dietrich, Young, Sarah, Bennett, Michael J., Tolun, Adviye A.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns
SISTA, Ramakrishna S, ECKHARDT, Allen E, MILLINGTON, David S, PAMULA, Vamsee K, TONG WANG, GRAHAM, Carrie, ROUSE, Jeremy L, NORTON, Scott M, SRINIVASAN, Vijay, POLLACK, Michael G, TOLUN, Adviye A, BALI, Deeksha
Published in Clinical chemistry (Baltimore, Md.) (01.10.2011)
Published in Clinical chemistry (Baltimore, Md.) (01.10.2011)
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Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner
Clark, Paul J., Thompson, Alexander J., Vock, David M., Kratz, Lisa E., Tolun, Adviye A., Muir, Andrew J., McHutchison, John G., Subramanian, Mani, Millington, David M., Kelley, Richard I., Patel, Keyur
Published in Hepatology (Baltimore, Md.) (01.07.2012)
Published in Hepatology (Baltimore, Md.) (01.07.2012)
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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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Involvement of calcitonin gene-related peptide and receptor component protein in experimental autoimmune encephalomyelitis
Sardi, Claudia, Zambusi, Laura, Finardi, Annamaria, Ruffini, Francesca, Tolun, Adviye A, Dickerson, Ian M, Righi, Marco, Zacchetti, Daniele, Grohovaz, Fabio, Provini, Luciano, Furlan, Roberto, Morara, Stefano
Published in Journal of neuroimmunology (15.06.2014)
Published in Journal of neuroimmunology (15.06.2014)
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Urinary Biomarkers of Oxidative Status in a Clinical Model of Oxidative Assault
LL'YASOVA, Dora, SPASOJEVIC, Ivan, MILLINGTON, David S, WANG, Frances, TOLUN, Adviye A, BASE, Karel, YOUNG, Sarah P, KELLY MARCOM, P, MARKS, Jeffrey, MIXON, Gabriel, DIGIULIO, Richard
Published in Cancer epidemiology, biomarkers & prevention (01.06.2010)
Published in Cancer epidemiology, biomarkers & prevention (01.06.2010)
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The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
Bhattacharya, Kaustuv, Matar, Walid, Tolun, Adviye Ayper, Devanapalli, Beena, Thompson, Sue, Dalkeith, Troy, Lichkus, Kate, Tchan, Michel
Published in Orphanet journal of rare diseases (18.02.2020)
Published in Orphanet journal of rare diseases (18.02.2020)
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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III
Sun, Baodong, Fredrickson, Keri, Austin, Stephanie, Tolun, Adviye A., Thurberg, Beth L., Kraus, William E., Bali, Deeksha, Chen, Yuan-Tsong, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
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A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots
Tolun, Adviye A., Graham, Carrie, Shi, Qun, Sista, Ramakrishna S., Wang, Tong, Eckhardt, Allen E., Pamula, Vamsee K., Millington, David S., Bali, Deeksha S.
Published in Molecular genetics and metabolism (01.03.2012)
Published in Molecular genetics and metabolism (01.03.2012)
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Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Thompson, Susan, Hertzog, Ashley, Selvanathan, Arthavan, Batten, Kiera, Lewis, Katherine, Nisbet, Janelle, Mitchell, Ashleigh, Dalkeith, Troy, Billmore, Kate, Moore, Francesca, Tolun, Adviye Ayper, Devanapalli, Beena, Bratkovic, Drago, Hilditch, Cathie, Rahman, Yusof, Tchan, Michel, Bhattacharya, Kaustuv
Published in Nutrients (19.01.2023)
Published in Nutrients (19.01.2023)
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Individual responses to chemotherapy-induced oxidative stress
Il'yasova, Dora, Kennedy, Kelly, Spasojevic, Ivan, Wang, Frances, Tolun, Adviye A, Base, Karel, Young, Sarah P, Kelly Marcom, P, Marks, Jeffrey, Millington, David S, Dewhirst, Mark W
Published in Breast cancer research and treatment (01.01.2011)
Published in Breast cancer research and treatment (01.01.2011)
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Intronic variants in inborn errors of metabolism: Beyond the exome
Hertzog, Ashley, Selvanathan, Arthavan, Farnsworth, Elizabeth, Tchan, Michel, Adams, Louisa, Lewis, Katherine, Tolun, Adviye Ayper, Bennetts, Bruce, Ho, Gladys, Bhattacharya, Kaustuv
Published in Frontiers in genetics (06.12.2022)
Published in Frontiers in genetics (06.12.2022)
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Systemic oxidative stress, as measured by urinary allantoin and F2 -isoprostanes, is not increased in Down syndrome
Tolun, Adviye A., MS, PhD, Scarbrough, Peter M., PhD, Zhang, Haoyue, PhD, McKillop, Jane-Ann, MS, Wang, Frances, MS, Kishnani, Priya S., MD, Millington, David S., PhD, Young, Sarah P., PhD, Il’yasova, Dora, PhD
Published in Annals of epidemiology (01.12.2012)
Published in Annals of epidemiology (01.12.2012)
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P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers
Hertzog, Ashley, Tolun, Adviye Ayper, Ellaway, Carolyn, Gold, Wendy, Ho, Gladys
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening
Chien, Yin-Hsiu, Goldstein, Jennifer L., Hwu, Wuh-Liang, Smith, P. Brian, Lee, Ni-Chung, Chiang, Shu-Chuan, Tolun, Adviye A., Zhang, Haoyue, Vaisnins, Amie E., Millington, David S., Kishnani, Priya S., Young, Sarah P.
Published in JIMD Reports, Volume 19 (01.01.2015)
Published in JIMD Reports, Volume 19 (01.01.2015)
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