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542 results

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Page 1
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Shchelochkov OA, Manoli I, Juneau P, Sloan JL, Ferry S, Myles J, Schoenfeld M, Pass A, McCoy S, Van Ryzin C, Wenger O, Levin M, Zein W, Huryn L, Snow J, Chlebowski C, Thurm A, Kopp JB, Chen KY, Venditti CP. Shchelochkov OA, et al. Among authors: mccoy s. Genet Med. 2021 Aug;23(8):1534-1542. doi: 10.1038/s41436-021-01173-2. Epub 2021 May 18. Genet Med. 2021. PMID: 34007002 Free PMC article.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew NA, Shchelochkov OA, Chen KY, Venditti CP. Manoli I, et al. Among authors: mccoy s. Genet Med. 2021 Aug;23(8):1522-1533. doi: 10.1038/s41436-021-01143-8. Epub 2021 Apr 5. Genet Med. 2021. PMID: 33820958 Free PMC article.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew NA, Shchelochkov OA, Chen KY, Venditti CP. Manoli I, et al. Among authors: mccoy s. Genet Med. 2021 Nov;23(11):2233. doi: 10.1038/s41436-021-01188-9. Genet Med. 2021. PMID: 33972722 Free PMC article. No abstract available.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP. Manoli I, et al. Among authors: mccoy s. J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6. J Inherit Metab Dis. 2023. PMID: 37243446 Free PMC article. Review.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP. Shchelochkov OA, et al. Among authors: mccoy s. Mol Psychiatry. 2024 Apr;29(4):974-981. doi: 10.1038/s41380-023-02385-5. Epub 2024 Jan 11. Mol Psychiatry. 2024. PMID: 38200289 Free PMC article.
Prehospital factors associated with mortality among road traffic injury patients: analysis of Cameroon trauma registry data.
Ngekeng S, Kibu O, Oke R, Bassah N, Touko DA, Yost MT, Dissak-Delon F, Tendongfor N, Nguefack-Tsague G, Hubbard A, McCoy SI, Christie SA, Chichom-Mefire A, Juillard C. Ngekeng S, et al. Among authors: mccoy si. BMC Emerg Med. 2024 Oct 16;24(1):194. doi: 10.1186/s12873-024-01113-8. BMC Emerg Med. 2024. PMID: 39415156 Free PMC article.
542 results