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Page 1
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: ashmore c. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Protein Substitutes in PKU; Their Historical Evolution.
Daly A, Evans S, Pinto A, Ashmore C, MacDonald A. Daly A, et al. Among authors: ashmore c. Nutrients. 2021 Feb 2;13(2):484. doi: 10.3390/nu13020484. Nutrients. 2021. PMID: 33540516 Free PMC article. Review.
Efficacy of a New Low-Protein Multimedia Diet App for PKU.
Evans S, Ashmore C, Daly A, Dhadwar P, Syed A, Lecocq O, Jackson R, Pinto A, MacDonald A. Evans S, et al. Among authors: ashmore c. Nutrients. 2022 May 24;14(11):2182. doi: 10.3390/nu14112182. Nutrients. 2022. PMID: 35683982 Free PMC article. Clinical Trial.
39 results