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Kidney transplantation in patients with Fabry disease.
Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G; European FOS Investigators Group. Cybulla M, et al. Transpl Int. 2009 Apr;22(4):475-81. doi: 10.1111/j.1432-2277.2008.00824.x. Epub 2009 Jan 22. Transpl Int. 2009. PMID: 19207191 Free article.
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Beauchamp NJ, et al. Among authors: ramaswami u. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. doi: 10.1016/j.ymgme.2007.06.007. Epub 2007 Aug 3. Mol Genet Metab. 2007. PMID: 17689125
Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey.
Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G. Kleinert J, et al. Among authors: ramaswami u. Kidney Int. 2005 May;67(5):1955-60. doi: 10.1111/j.1523-1755.2005.00294.x. Kidney Int. 2005. PMID: 15840043 Free article.
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
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: ramaswami u. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Linthorst GE, et al. Among authors: ramaswami u. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. JIMD Rep. 2013. PMID: 23430520 Free PMC article.
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