FilmArray, an automated nested multiplex PCR system for multi-pathogen detection: development and application to respiratory tract infection von Poritz, Mark A, Blaschke, Anne J, Byington, Carrie L, Allen, Lindsay, Nilsson, Kody, Jones, David E, Thatcher, Stephanie A, Robbins, Thomas, Lingenfelter, Beth, Amiott, Elizabeth, Herbener, Amy, Daly, Judy, Dobrowolski, Steven F, Teng, David H-F, Ririe, Kirk M

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Impaired mitochondrial medium-chain fatty acid oxidation drives periportal macrovesicular steatosis in sirtuin-5 knockout mice von Goetzman, Eric S., Bharathi, Sivakama S., Zhang, Yuxun, Zhao, Xue-Jun, Dobrowolski, Steven F., Peasley, Kevin, Sims-Lucas, Sunder, Monga, Satdarshan P.

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Epigenetic signature of human vitamin D3 and IL-10 conditioned regulatory DCs von Liu, Silvia, Zahorchak, Alan F., Dobrowolski, Steven F., Metes, Diana M., Thomson, Angus W., Abdelsamed, Hossam A.

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Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency von Taylor, Jennifer L, Lee, Francis K, Yazdanpanah, Golriz Khadem, Staropoli, John F, Liu, Mei, Carulli, John P, Sun, Chao, Dobrowolski, Steven F, Hannon, W Harry, Vogt, Robert F

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Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders von Sklirou, Evgenia, Alodaib, Ahmad N, Dobrowolski, Steven F, Mohsen, Al-Walid A, Vockley, Jerry

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Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction von Dobrowolski, Steven F., Tourkova, Irina L., Larrouture, Quitterie C., Blair, Harry C.

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An Infant with a Constellation of Biochemical Abnormalities von Phua, Yu Leng, Dobrowolski, Steven F

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer von Hartung, Anne-Mette, Swensen, Jeff, Uriz, Inaki E, Lapin, Morten, Kristjansdottir, Karen, Petersen, Ulrika S S, Bang, Jeanne Mari V, Guerra, Barbara, Andersen, Henriette Skovgaard, Dobrowolski, Steven F, Carey, John C, Yu, Ping, Vaughn, Cecily, Calhoun, Amy, Larsen, Martin R, Dyrskjøt, Lars, Stevenson, David A, Andresen, Brage S

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Congenital Disorder of Glycosylation in a Child with Macrosomia von Madan-Khetarpal, Suneeta, He, Maio, Wongkittichote, Parith, Dobrowolski, Steven F

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Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling von Dobrowolski, Steven F, Gray, Jesse, Miller, Trent, Sears, Mitch

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Medium chain acyl-CoA dehydrogenase deficiency in a premature infant von Dobrowolski, Steven F, Ghaloul-Gonzalez, Lina, Vockley, Jerry

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Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling von DOBROWOLSKI, Steven F, PHAM, Ha T, POUCH DOWNES, Frances, PRIOR, Thomas W, NAYLOR, Edwin W, SWOBODA, Kathy J

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ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction von Wolfe, Rachel, Heiman, Paige, D'Annibale, Olivia, Karunanidhi, Anuradha, Powers, Alyssa, Mcguire, Marianne, Seminotti, Bianca, Dobrowolski, Steven F., Reyes-Múgica, Miguel, Torok, Kathryn S., Mohsen, Al-Walid, Vockley, Jerry, Ghaloul-Gonzalez, Lina

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Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons von Gundry, Cameron N, Dobrowolski, Steven F, Martin, Y. Ranae, Robbins, Thomas C, Nay, Lyle M, Boyd, Nathan, Coyne, Thomas, Wall, Mikeal D, Wittwer, Carl T, Teng, David H.-F

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Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity von Dobrowolski, Steven F., Phua, Yu Leng, Vockley, Jerry, Goetzman, Eric, Blair, Harry C.

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Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction von Dobrowolski, Steven F., Phua, Yu Leng, Tourkova, Irina L., Sudano, Cayla, Vockley, Jerry, Larrouture, Quitterie C., Blair, Harry C.

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Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11 von Heintz, Caroline, Dobrowolski, Steven F., Andersen, Henriette Skovgaard, Demirkol, Mübeccel, Blau, Nenad, Andresen, Brage Storstein

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Application of an Advanced Friction Model in Hot Stamping Simulations: A Numerical and Experimental Investigation of an A-Pillar Reinforcement Panel from Volvo Cars von Güner, A., Hol, J., Venema, J., Sigvant, M., Dobrowolski, F., Komodromos, A., Tekkaya, A. E.

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A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria von Phua, Yu Leng, D'Annibale, Olivia M., Karunanidhi, Anuradha, Mohsen, Al-Walid, Kirmse, Brian, Dobrowolski, Steven F., Vockley, Jerry

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Hydroxocobalamin infusion in a patient monitored for plasma free hemoglobin levels von Patwardhan, Pranav Pramod, Cropcho, Lorna, Ortmann, Katie, Dobrowolski, Steven F., Palmer, Octavia Peck, Wheeler, Sarah

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