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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.
Leukodystrophy in patients with ovarian dysgenesis.
Schiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA. Schiffmann R, et al. Ann Neurol. 1997 May;41(5):654-61. doi: 10.1002/ana.410410515. Ann Neurol. 1997. PMID: 9153528
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.
Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO, Dambrosia JM, Schiffmann R, Brewer CC. Ries M, et al. Among authors: schiffmann r. Brain. 2007 Jan;130(Pt 1):143-50. doi: 10.1093/brain/awl310. Epub 2006 Nov 14. Brain. 2007. PMID: 17105746 Free PMC article.
Elevated CNS average diffusion constant in Fabry disease.
Moore DF, Schiffmann R, Ulug AM. Moore DF, et al. Among authors: schiffmann r. Acta Paediatr Suppl. 2002;91(439):67-8. doi: 10.1111/j.1651-2227.2002.tb03114.x. Acta Paediatr Suppl. 2002. PMID: 12572846
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