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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Among authors: mitchell ga. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327
Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.
Yang H, Wang Y, Tang MC, Waters P, Wang S, Allard P, Ryan RO, Nuyt AM, Paradis P, Schiffrin EL, Furtos A, Mitchell GA. Yang H, et al. Among authors: mitchell ga. Mol Genet Metab. 2022 Nov;137(3):257-264. doi: 10.1016/j.ymgme.2022.09.008. Epub 2022 Sep 30. Mol Genet Metab. 2022. PMID: 36228350
[No title available]
[No authors listed] [No authors listed] PMID: 32989766
Hereditary and acquired diseases of acyl-coenzyme A metabolism.
Mitchell GA, Gauthier N, Lesimple A, Wang SP, Mamer O, Qureshi I. Mitchell GA, et al. Mol Genet Metab. 2008 May;94(1):4-15. doi: 10.1016/j.ymgme.2007.12.005. Epub 2008 Mar 11. Mol Genet Metab. 2008. PMID: 18337138 Review.
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N. Sakurai S, et al. Among authors: mitchell ga. Mol Genet Metab. 2007 Apr;90(4):370-8. doi: 10.1016/j.ymgme.2006.12.002. Epub 2007 Jan 22. Mol Genet Metab. 2007. PMID: 17236799
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.
Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. Yang H, et al. Among authors: mitchell ga. Mol Genet Metab Rep. 2017 Dec 27;14:55-58. doi: 10.1016/j.ymgmr.2017.12.002. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29326876 Free PMC article.
263 results