Regulation of mitochondrial metabolism in murine skeletal muscle by the medium‐chain fatty acid receptor Gpr84 von 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

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Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) von Sharer, J. Daniel, De Biase, Irene, Matern, Dietrich, Young, Sarah, Bennett, Michael J., Tolun, Adviye A.

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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases? von El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.

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Urinary Biomarkers of Oxidative Status in a Clinical Model of Oxidative Assault von 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

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Inborn errors of metabolism refuse to stay‐at‐home: Experiences of a state‐wide biochemical genetics service during the COVID‐19 pandemic von Gutierrez, Bea, Hertzog, Ashley, Badman, Susan, Tolun, Adviye A

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Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism von Hertzog, Ashley, Selvanathan, Arthavan, Tolun, Adviye A, Parayil Sankaran, Bindu, Bhattacharya, Kaustuv

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Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns von 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

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Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner von 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

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Effects of Specific Zidovudine Resistance Mutations and Substrate Structure on Nucleotide-Dependent Primer Unblocking by Human Immunodeficiency Virus Type 1 Reverse Transcriptase von MEYER, Peter R, MATSUURA, Suzanne E, TOLUN, Adviye A, PFEIFER, Ingrid, SO, Antero G, MELLORS, John W, SCOTT, Walter A

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Involvement of calcitonin gene-related peptide and receptor component protein in experimental autoimmune encephalomyelitis von 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

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Allantoin in human urine quantified by ultra-performance liquid chromatography–tandem mass spectrometry von Tolun, Adviye A., Zhang, Haoyue, Il’yasova, Dora, Sztáray, Judit, Young, Sarah P., Millington, David S.

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Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity von Bali, Deeksha S., Tolun, Adviye A., Goldstein, Jennifer L., Dai, Jian, Kishnani, Priya S.

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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III von Sun, Baodong, Fredrickson, Keri, Austin, Stephanie, Tolun, Adviye A., Thurberg, Beth L., Kraus, William E., Bali, Deeksha, Chen, Yuan-Tsong, Kishnani, Priya S.

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A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots von Tolun, Adviye A., Graham, Carrie, Shi, Qun, Sista, Ramakrishna S., Wang, Tong, Eckhardt, Allen E., Pamula, Vamsee K., Millington, David S., Bali, Deeksha S.

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Individual responses to chemotherapy-induced oxidative stress von 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

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Systemic oxidative stress, as measured by urinary allantoin and F2 -isoprostanes, is not increased in Down syndrome von 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

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Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening von 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.

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Overexpression and purification of human calcitonin gene-related peptide–receptor component protein in Escherichia coli von Tolun, Adviye A., Dickerson, Ian M., Malhotra, Arun

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Diagnostic value of a microfluidic based fluorometric enzyme assay platform using dried blood spots for a lysosomal disorder, Fabry disease von Tolun, Adviye A., Sista, Ramakrishna S., Eisenberg, Marcia, Eckhardt, Allen E., Pamula, Vamsee K., McDowell, Geraldine A.

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Allantoin in Human Urine Quantified by UPLC-MS/MS von Tolun, Adviye A., Zhang, Haoyue, Ii'yasova, Dora, Sztáray, Judit, Young, Sarah P., Millington, David S.

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