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Page 1
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. Wongchaisuwat N, et al. Among authors: gregor a. Ophthalmic Genet. 2024 Apr;45(2):140-146. doi: 10.1080/13816810.2024.2303682. Epub 2024 Jan 30. Ophthalmic Genet. 2024. PMID: 38288966 Free PMC article.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: gregor a. J Inherit Metab Dis. 2024 Jul;47(4):746-756. doi: 10.1002/jimd.12738. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38623632 Free PMC article.
D-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders.
Gregor AN, Delerive P, Cuenoud B, Monnard I, Redeuil K, Harding CO, Gillingham MB. Gregor AN, et al. Mol Genet Metab. 2025 Apr;144(4):109070. doi: 10.1016/j.ymgme.2025.109070. Epub 2025 Feb 25. Mol Genet Metab. 2025. PMID: 40048912 Clinical Trial.
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).
Chung H, Choi D, Gregor A, Sim E, Lau A, Black D, Scanga HL, Linshinski A, Pennesi ME, Sahel JA, Nischal KK, Yang P, Everett L, Vockley J, Matern D, Harding CO, Gillingham MB. Chung H, et al. Among authors: gregor a. J Inherit Metab Dis. 2025 Jul;48(4):e70060. doi: 10.1002/jimd.70060. J Inherit Metab Dis. 2025. PMID: 40635623
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.
Altay MF, Gregor A, Braun D, Rieubland C, Gautschi M, Perret Hoigné E, Schiller R, Keren B, Afenjar A; Undiagnosed Diseases Network; Martinez-Agosto JA, Rosenfeld JA, Zweier C. Altay MF, et al. Among authors: gregor a. Eur J Hum Genet. 2025 Oct 27. doi: 10.1038/s41431-025-01966-y. Online ahead of print. Eur J Hum Genet. 2025. PMID: 41145827
344 results