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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: clayton pt. 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
Aromatic amino acid decarboxylase deficiency in twins.
Hyland K, Clayton PT. Hyland K, et al. Among authors: clayton pt. J Inherit Metab Dis. 1990;13(3):301-4. doi: 10.1007/BF01799380. J Inherit Metab Dis. 1990. PMID: 1700191 No abstract available.
Features of carnitine palmitoyltransferase type I deficiency.
Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS. Olpin SE, et al. Among authors: clayton pt. J Inherit Metab Dis. 2001 Feb;24(1):35-42. doi: 10.1023/a:1005694320063. J Inherit Metab Dis. 2001. PMID: 11286380
Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis.
Mills PB, Mills K, Johnson AW, Clayton PT, Winchester BG. Mills PB, et al. Among authors: clayton pt. Proteomics. 2001 Jun;1(6):778-86. doi: 10.1002/1615-9861(200106)1:6<778::AID-PROT778>3.0.CO;2-H. Proteomics. 2001. PMID: 11677785
249 results