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Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab. 2023 Nov;140(3):107689. doi: 10.1016/j.ymgme.2023.107689. Epub 2023 Aug 25.
Mol Genet Metab. 2023.
PMID: 37660571
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.
Phua YL, D'Annibale OM, Karunanidhi A, Mohsen AW, Kirmse B, Dobrowolski SF, Vockley J.
Phua YL, et al. Among authors: d annibale om.
bioRxiv [Preprint]. 2023 Feb 3:2023.02.02.526527. doi: 10.1101/2023.02.02.526527.
bioRxiv. 2023.
PMID: 36778323
Free PMC article.
Preprint.
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ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.
Wolfe R, Heiman P, D'Annibale O, Karunanidhi A, Powers A, Mcguire M, Seminotti B, Dobrowolski SF, Reyes-Múgica M, Torok KS, Mohsen AW, Vockley J, Ghaloul-Gonzalez L.
Wolfe R, et al. Among authors: d annibale o.
Mol Genet Metab Rep. 2022 Oct 29;33:100932. doi: 10.1016/j.ymgmr.2022.100932. eCollection 2022 Dec.
Mol Genet Metab Rep. 2022.
PMID: 36338154
Free PMC article.
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Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
D'Annibale OM, Phua YL, Van't Land C, Karunanidhi A, Dorenbaum A, Mohsen AW, Vockley J.
D'Annibale OM, et al.
Cells. 2022 Aug 24;11(17):2635. doi: 10.3390/cells11172635.
Cells. 2022.
PMID: 36078043
Free PMC article.
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Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
D'Annibale OM, Koppes EA, Sethuraman M, Bloom K, Mohsen AW, Vockley J.
D'Annibale OM, et al.
J Inherit Metab Dis. 2022 May;45(3):529-540. doi: 10.1002/jimd.12492. Epub 2022 Mar 11.
J Inherit Metab Dis. 2022.
PMID: 35218577
Free PMC article.
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Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J.
D'Annibale OM, et al.
Mol Genet Metab. 2021 Sep-Oct;134(1-2):29-36. doi: 10.1016/j.ymgme.2021.08.012. Epub 2021 Aug 30.
Mol Genet Metab. 2021.
PMID: 34535384
Free PMC article.
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