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Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Dutra-Clarke M, Tapia D, Curtin E, Rünger D, Lee GK, Lakatos A, Alandy-Dy Z, Freedkin L, Hall K, Ercelen N, Alandy-Dy J, Knight M, Pahl M, Lombardo D, Kimonis V. Dutra-Clarke M, et al. Among authors: kimonis v. Mol Genet Metab Rep. 2020 Dec 31;26:100700. doi: 10.1016/j.ymgmr.2020.100700. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33437642 Free PMC article.
Prevalence of cerebral small vessel disease in a Fabry disease cohort.
Tapia D, Floriolli D, Han E, Lee G, Paganini-Hill A, Wang S, Zandihaghighi S, Kimonis V, Fisher M. Tapia D, et al. Among authors: kimonis v. Mol Genet Metab Rep. 2021 Oct 21;29:100815. doi: 10.1016/j.ymgmr.2021.100815. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34745889 Free PMC article.
Mild fumarase deficiency and a trial of low protein diet.
Kimonis VE, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V. Kimonis VE, et al. Mol Genet Metab. 2012 Sep;107(1-2):241-2. doi: 10.1016/j.ymgme.2012.04.010. Epub 2012 Apr 20. Mol Genet Metab. 2012. PMID: 22595425
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.
Bonesteele G, Gargus JJ, Curtin E, Tang M, Rosenbloom B, Kimonis V. Bonesteele G, et al. Among authors: kimonis v. Mol Genet Metab Rep. 2020 Oct 21;25:100663. doi: 10.1016/j.ymgmr.2020.100663. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33101982 Free PMC article.
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. Esmailpour T, et al. Among authors: kimonis v. J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431331 Free PMC article.
225 results