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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: quirk jm. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15. Pediatrics. 2005. PMID: 15713906
Screening for pharmacological chaperones in Fabry disease.
Shin SH, Murray GJ, Kluepfel-Stahl S, Cooney AM, Quirk JM, Schiffmann R, Brady RO, Kaneski CR. Shin SH, et al. Among authors: quirk jm. Biochem Biophys Res Commun. 2007 Jul 20;359(1):168-73. doi: 10.1016/j.bbrc.2007.05.082. Epub 2007 May 22. Biochem Biophys Res Commun. 2007. PMID: 17532296 Free PMC article.
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. Among authors: quirk jm. 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.
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: quirk jm. Medicine (Baltimore). 2002 Mar;81(2):122-38. doi: 10.1097/00005792-200203000-00003. Medicine (Baltimore). 2002. PMID: 11889412 Free article. No abstract available.
Physiological characterization of neuropathy in Fabry's disease.
Luciano CA, Russell JW, Banerjee TK, Quirk JM, Scott LJ, Dambrosia JM, Barton NW, Schiffmann R. Luciano CA, et al. Among authors: quirk jm. Muscle Nerve. 2002 Nov;26(5):622-9. doi: 10.1002/mus.10236. Muscle Nerve. 2002. PMID: 12402283
35 results