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An activating mutation of AKT2 and human hypoglycemia.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Among authors: ramaswami u. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA. Ramaswami U, et al. Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3. Mol Genet Metab. 2019. PMID: 30987917 Free article. Clinical Trial.
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U. Wijburg FA, et al. Among authors: ramaswami u. PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015. PLoS One. 2015. PMID: 25955246 Free PMC article. Clinical Trial.
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Ramos M, Menao S, Arnedo M, Puisac B, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Pierre G, Ramaswami U, Baquero-Montoya C, Bueno G, Casale C, Hegardt FG, Gómez-Puertas P, Pié J. Ramos M, et al. Among authors: ramaswami u. Eur J Med Genet. 2013 Aug;56(8):411-5. doi: 10.1016/j.ejmg.2013.05.008. Epub 2013 Jun 7. Eur J Med Genet. 2013. PMID: 23751782
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, Ramaswami U, West M, Wijatyk A, Giugliani R; Fabry Outcome Survey Study Group. Beck M, et al. Among authors: ramaswami u. Mol Genet Metab Rep. 2015 Mar 5;3:21-7. doi: 10.1016/j.ymgmr.2015.02.002. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937390 Free PMC article.
110 results