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SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA. Tuschl K, et al. Among authors: clayton pt. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28541650 Free Books & Documents. Review.
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
Khalil Y, Carrino S, Lin F, Ferlin A, Lad HV, Mazzacuva F, Falcone S, Rivers N, Banks G, Concas D, Aguilar C, Haynes AR, Blease A, Nicol T, Al-Shawi R, Heywood W, Potter P, Mills K, Gale DP, Clayton PT. Khalil Y, et al. Among authors: clayton pt. Int J Mol Sci. 2022 Jan 17;23(2):987. doi: 10.3390/ijms23020987. Int J Mol Sci. 2022. PMID: 35055171 Free PMC article.
Hypermanganesemia with Dystonia 1.
Tuschl K, Clayton PT, Gospe SM Jr, Mills PB. Tuschl K, et al. Among authors: clayton pt. 2012 Aug 30 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Aug 30 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22934317 Free Books & Documents. Review.
Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.
Yutuc E, Dickson AL, Pacciarini M, Griffiths L, Baker PRS, Connell L, Öhman A, Forsgren L, Trupp M, Vilarinho S, Khalil Y, Clayton PT, Sari S, Dalgic B, Höflinger P, Schöls L, Griffiths WJ, Wang Y. Yutuc E, et al. Among authors: clayton pt. Anal Chim Acta. 2021 Apr 15;1154:338259. doi: 10.1016/j.aca.2021.338259. Epub 2021 Feb 4. Anal Chim Acta. 2021. PMID: 33736801 Free PMC article.
Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.
Abdel-Khalik J, Hearn T, Dickson AL, Crick PJ, Yutuc E, Austin-Muttitt K, Bigger BW, Morris AA, Shackleton CH, Clayton PT, Iida T, Sircar R, Rohatgi R, Marschall HU, Sjövall J, Björkhem I, Mullins JGL, Griffiths WJ, Wang Y. Abdel-Khalik J, et al. Among authors: clayton pt. J Steroid Biochem Mol Biol. 2021 Feb;206:105794. doi: 10.1016/j.jsbmb.2020.105794. Epub 2020 Nov 24. J Steroid Biochem Mol Biol. 2021. PMID: 33246156 Free PMC article.
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
187 results