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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.
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
Phenotypic diversity of patients diagnosed with VACTERL association.
Husain M, Dutra-Clarke M, Lemieux B, Wencel M, Solomon BD, Kimonis V. Husain M, et al. Among authors: kimonis v. Am J Med Genet A. 2018 Sep;176(9):1830-1837. doi: 10.1002/ajmg.a.40363. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152190
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. Kimonis V, et al. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518176 Free article. Review.
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.
Stroke and Chronic Kidney Disease in Fabry Disease.
Tapia D, Kimonis V. Tapia D, et al. Among authors: kimonis v. J Stroke Cerebrovasc Dis. 2021 Sep;30(9):105423. doi: 10.1016/j.jstrokecerebrovasdis.2020.105423. Epub 2020 Nov 5. J Stroke Cerebrovasc Dis. 2021. PMID: 33160817 Review.
Characteristics of VCP mutation-associated cardiomyopathy.
Wang SC, Smith CD, Lombardo DM, Kimonis V. Wang SC, et al. Among authors: kimonis v. Neuromuscul Disord. 2021 Aug;31(8):701-705. doi: 10.1016/j.nmd.2021.06.005. Epub 2021 Jun 12. Neuromuscul Disord. 2021. PMID: 34244020
225 results