Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

por Dobrowolski, Steven F., Ghaloul-Gonzalez, Lina, Vockley, Jerry
Publicado 2017

Creatine energy substrate increases bone density in the Pah(enu2) classical PKU mouse in the context of phenylalanine restriction

por Dobrowolski, Steven F., Tourkova, Irina L., Larrouture, Quitterie C., Blair, Harry C.
Publicado 2023

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

por Sklirou, Evgenia, Alodaib, Ahmad N., Dobrowolski, Steven F., Mohsen, Al-Walid A., Vockley, Jerry
Publicado 2021

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

por Raghu, Vikram K., Dobrowolski, Steven F., Sindhi, Rakesh, Strauss, Kevin A., Mazariegos, George V., Vockley, Jerry, Soltys, Kyle
Publicado 2022

Glutamine energy substrate anaplerosis increases bone density in the Pah(enu2) classical PKU mouse in the absence of phenylalanine restriction

por Dobrowolski, Steven F., Phua, Yu Leng, Tourkova, Irina L., Sudano, Cayla, Vockley, Jerry, Larrouture, Quitterie C., Blair, Harry C.
Publicado 2022

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

por Phua, Yu Leng, D’Annibale, Olivia M, Karunanidhi, Anuradha, Mohsen, Al-Walid, Kirmse, Brian, Dobrowolski, Steven F, Vockley, Jerry
Publicado 2023

Impaired mitochondrial medium-chain fatty acid oxidation drives periportal macrovesicular steatosis in sirtuin-5 knockout mice

por Goetzman, Eric S., Bharathi, Sivakama S., Zhang, Yuxun, Zhao, Xue-Jun, Dobrowolski, Steven F., Peasley, Kevin, Sims-Lucas, Sunder, Monga, Satdarshan P.
Publicado 2020

Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma

por Wang, Huabo, Lu, Jie, Chen, Xiaoguang, Schwalbe, Marie, Gorka, Joanna E., Mandel, Jordan A., Wang, Jinglin, Goetzman, Eric S., Ranganathan, Sarangarajan, Dobrowolski, Steven F., Prochownik, Edward V.
Publicado 2021

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons

por 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.
Publicado 2008

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

por 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
Publicado 2022

FilmArray, an Automated Nested Multiplex PCR System for Multi-Pathogen Detection: Development and Application to Respiratory Tract Infection

por Poritz, Mark A., Blaschke, Anne J., Byington, Carrie L., Meyers, 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.
Publicado 2011

Correction: FilmArray, an Automated Nested Multiplex PCR System for Multi-Pathogen Detection: Development and Application to Respiratory Tract Infection

por Poritz, Mark A., Blaschke, Anne J., Byington, Carrie L., Meyers, 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.
Publicado 2011

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

por 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.
Publicado 2016

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

por Koppes, Erik A., Redel, Bethany K., Johnson, Marie A., Skvorak, Kristen J., Ghaloul-Gonzalez, Lina, Yates, Megan E., Lewis, Dale W., Gollin, Susanne M., Wu, Yijen L., Christ, Shawn E., Yerle, Martine, Leshinski, Angela, Spate, Lee D., Benne, Joshua A., Murphy, Stephanie L., Samuel, Melissa S., Walters, Eric M., Hansen, Sarah A., Wells, Kevin D., Lichter-Konecki, Uta, Wagner, Robert A., Newsome, Joseph T., Dobrowolski, Steven F., Vockley, Jerry, Prather, Randall S., Nicholls, Robert D.
Publicado 2020

Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality

por So, Juhoon, Ningappa, Mylarappa, Glessner, Joseph, Min, Jun, Ashokkumar, Chethan, Ranganathan, Sarangarajan, Higgs, Brandon W., Li, Dong, Sun, Qing, Schmitt, Lori, Biery, Amy C., Dobrowolski, Steven, Trautz, Christine, Fuhrman, Leah, Schwartz, Molly Christine, Klena, Nikolai Thomas, Fusco, Joseph, Prasadan, Krishna, Adenuga, Morayooluwa, Mohamed, Nada, Yan, Qi, Chen, Wei, Horne, William, Dhawan, Anil, Sharif, Khalid, Kelly, Deirdre, Squires, Robert H, Gittes, George K., Hakonarson, Hakon, Morell, Victor, Lo, Cecilia, Subramaniam, Shankar, Shin, Donghun, Sindhi, Rakesh
Publicado 2020