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Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.
Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, Quirk JM, Zirzow GC, Borowski M, Loveday K, Anderson T, Gillespie F, Oliver KL, Jeffries NO, Doo E, Liang TJ, Kreps C, Gunter K, Frei K, Crutchfield K, Selden RF, Brady RO. Schiffmann R, et al. Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):365-70. doi: 10.1073/pnas.97.1.365. Proc Natl Acad Sci U S A. 2000. PMID: 10618424 Free PMC article. Clinical Trial.
Enzyme replacement therapy in Fabry disease.
Brady RO, Murray GJ, Moore DF, Schiffmann R. Brady RO, et al. Among authors: schiffmann r. J Inherit Metab Dis. 2001;24 Suppl 2:18-24; discussion 11-2. doi: 10.1023/a:1012451320105. J Inherit Metab Dis. 2001. PMID: 11758675 Review.
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, Goldfarb L, Brady RO, Balow JE, Austin Iii HA, Kopp JB. Branton MH, et al. Among authors: schiffmann r. Medicine (Baltimore). 2002 Mar;81(2):122-38. doi: 10.1097/00005792-200203000-00003. Medicine (Baltimore). 2002. PMID: 11889412 Free article. No abstract available.
Pediatric Fabry disease.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Ries M, et al. Among authors: schiffmann r. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15. Pediatrics. 2005. PMID: 15713906
323 results