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Page 1
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: schiffmann r. 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.
Cellular and tissue localization of globotriaosylceramide in Fabry disease.
Askari H, Kaneski CR, Semino-Mora C, Desai P, Ang A, Kleiner DE, Perlee LT, Quezado M, Spollen LE, Wustman BA, Schiffmann R. Askari H, et al. Among authors: schiffmann r. Virchows Arch. 2007 Oct;451(4):823-34. doi: 10.1007/s00428-007-0468-6. Epub 2007 Aug 3. Virchows Arch. 2007. PMID: 17674039
Mucolipidosis IV consists of one complementation group.
Goldin E, Cooney A, Kaneski CR, Brady RO, Schiffmann R. Goldin E, et al. Among authors: schiffmann r. Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8562-6. doi: 10.1073/pnas.96.15.8562. Proc Natl Acad Sci U S A. 1999. PMID: 10411915 Free PMC article.
323 results