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Response to Cunningham et al.
Manoli I, Myles JG, Sloan JL, Shchelochkov OA, Venditti CP. Manoli I, et al. Among authors: myles jg. Genet Med. 2016 Apr;18(4):414-5. doi: 10.1038/gim.2016.12. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963280 Free PMC article. No abstract available.
Chronic kidney disease in propionic acidemia.
Shchelochkov OA, Manoli I, Sloan JL, Ferry S, Pass A, Van Ryzin C, Myles J, Schoenfeld M, McGuire P, Rosing DR, Levin MD, Kopp JB, Venditti CP. Shchelochkov OA, et al. Genet Med. 2019 Dec;21(12):2830-2835. doi: 10.1038/s41436-019-0593-z. Epub 2019 Jun 28. Genet Med. 2019. PMID: 31249402 Free PMC article. Clinical Trial.
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. 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.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Genet Med. 2024 Apr 16:101144. doi: 10.1016/j.gim.2024.101144. Online ahead of print. Genet Med. 2024. PMID: 38641994