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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
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.
D'Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O, Page K, Ramaswami U, Johannesdottir F, Cox TM, Deegan P, Poole KE; MRC Gaucherite Consortium; MRC Gaucherite Consortium Collaborators. D'Amore S, et al. Among authors: ramaswami u. Radiology. 2023 Apr;307(1):e212779. doi: 10.1148/radiol.212779. Epub 2022 Dec 20. Radiology. 2023. PMID: 36537898 Free PMC article. Clinical Trial.
Transfer of high cost drugs to NICE risks fragmentation of care of rare diseases.
Hendriksz CJ, Hughes DA, Mehta AB, Wraith JE, Jones SE, Ramaswami U, Deegan P, Lachmann R, Murphy E, Hiwot T, Vijay SV, Stewart F, Cleary M. Hendriksz CJ, et al. Among authors: ramaswami u. BMJ. 2012 Aug 24;345:e5727. doi: 10.1136/bmj.e5727. BMJ. 2012. PMID: 22923539 No abstract available.
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.
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P. Auray-Blais C, et al. Among authors: ramaswami u. Clin Chim Acta. 2015 Jan 1;438:195-204. doi: 10.1016/j.cca.2014.08.002. Epub 2014 Aug 19. Clin Chim Acta. 2015. PMID: 25149322 Clinical Trial.
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Biegstraaten M, et al. Among authors: ramaswami u. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. Orphanet J Rare Dis. 2015. PMID: 25885911 Free PMC article.
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