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ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. Vilarinho S, et al. Among authors: clayton pt. Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293. doi: 10.1073/pnas.1613228113. Epub 2016 Sep 19. Proc Natl Acad Sci U S A. 2016. PMID: 27647924 Free PMC article.
Inborn errors of bile acid metabolism.
Clayton PT. Clayton PT. J Inherit Metab Dis. 1991;14(4):478-96. doi: 10.1007/BF01797919. J Inherit Metab Dis. 1991. PMID: 1749214 Review.
Disorders of bile acid synthesis.
Clayton PT. Clayton PT. J Inherit Metab Dis. 2011 Jun;34(3):593-604. doi: 10.1007/s10545-010-9259-3. Epub 2011 Jan 13. J Inherit Metab Dis. 2011. PMID: 21229319 Review.
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT. Chong CP, et al. Among authors: clayton pt. J Inherit Metab Dis. 2012 May;35(3):521-30. doi: 10.1007/s10545-011-9416-3. Epub 2011 Nov 17. J Inherit Metab Dis. 2012. PMID: 22089923
Vps33b is crucial for structural and functional hepatocyte polarity.
Hanley J, Dhar DK, Mazzacuva F, Fiadeiro R, Burden JJ, Lyne AM, Smith H, Straatman-Iwanowska A, Banushi B, Virasami A, Mills K, Lemaigre FP, Knisely AS, Howe S, Sebire N, Waddington SN, Paulusma CC, Clayton P, Gissen P. Hanley J, et al. J Hepatol. 2017 May;66(5):1001-1011. doi: 10.1016/j.jhep.2017.01.001. Epub 2017 Jan 9. J Hepatol. 2017. PMID: 28082148 Free PMC article.
250 results