Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening
D'Annibale, Olivia M., Koppes, Erik A., Sethuraman, Meena, Bloom, Kaitlyn, Mohsen, Al‐Walid, Vockley, Jerry
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
D'Annibale, Olivia M, Phua, Yu Leng, Van't Land, Clinton, Karunanidhi, Anuradha, Dorenbaum, Alejandro, Mohsen, Al-Walid, Vockley, Jerry
Published in Cells (Basel, Switzerland) (24.08.2022)
Published in Cells (Basel, Switzerland) (24.08.2022)
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Journal Article
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
D'Annibale, Olivia M., Koppes, Erik A., Alodaib, Ahmad N., Kochersperger, Catherine, Karunanidhi, Anuradha, Mohsen, Al-Walid, Vockley, Jerry
Published in Molecular genetics and metabolism (01.09.2021)
Published in Molecular genetics and metabolism (01.09.2021)
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Journal Article
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria
Phua, Yu Leng, D'Annibale, Olivia M., Karunanidhi, Anuradha, Mohsen, Al-Walid, Kirmse, Brian, Dobrowolski, Steven F., Vockley, Jerry
Published in Molecular genetics and metabolism (01.07.2024)
Published in Molecular genetics and metabolism (01.07.2024)
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Journal Article
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency
Karunanidhi, Anuradha, Basu, Shakuntala, Zhao, Xue-Jun, D'Annibale, Olivia, Van't Land, Clinton, Vockley, Jerry, Mohsen, Al-Walid
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction
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
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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Journal Article
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
Phua, Yu Leng, D'Annibale, Olivia M, Karunanidhi, Anuradha, Mohsen, Al-Walid, Kirmse, Brian, Dobrowolski, Steven F, Vockley, Jerry
Published in bioRxiv (03.02.2023)
Published in bioRxiv (03.02.2023)
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Journal Article
Paper
IDENTIFICATION OF ECHS1 DEFICIENCY USING PLASMA ACYLCARNITINE ANALYSIS
D'Annibale, Olivia, Phinney, Whitney, Kocchar, Aaina, Wood, Tim C.
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
Development of a novel MSMS based enzyme assay for ECHS1 deficiency and blood based biomarkers for early detection of critically ill infants
D'Annibale, Olivia, Phinney, Whitney, LoPiccolo, Mary Kate, Elsharkawi, Ibrahim, Kochhar, Aaina, Wood, Tim
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Journal Article
Very long-chain acyl-CoA dehydrogenase deficiency newborn screening in Colorado: Application of a standardized diagnostic protocol
Crenshaw, Molly, D'Annibale, Olivia, Schechter, Allison, Sethuraman, Meena, Porter, Cory, Bonn, Gregory, Wright, Erica, Vockley, Jerry, Hall, Patricia, McCandless, Shawn
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Journal Article
OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening
D'Annibale, Olivia, Sethuraman, Meena, Koppes, Erik, Mohsen, Al-Walid, Vockley, Jerry
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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