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High incidence of later-onset fabry disease revealed by newborn screening.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. Spada M, et al. Among authors: desnick rj. Am J Hum Genet. 2006 Jul;79(1):31-40. doi: 10.1086/504601. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16773563 Free PMC article.
Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.
Kuchar L, Faltyskova H, Krasny L, Dobrovolny R, Hulkova H, Ledvinova J, Volny M, Strohalm M, Lemr K, Kryspinova L, Asfaw B, Rybová J, Desnick RJ, Havlicek V. Kuchar L, et al. Among authors: desnick rj. Anal Bioanal Chem. 2015 Mar;407(8):2283-91. doi: 10.1007/s00216-014-8402-7. Epub 2014 Dec 27. Anal Bioanal Chem. 2015. PMID: 25542581
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK, Christensen EI, Sorensen SS, Wibrand F, Desnick RJ. Feldt-Rasmussen U, et al. Among authors: desnick rj. Mol Genet Metab. 2011 Nov;104(3):314-8. doi: 10.1016/j.ymgme.2011.05.008. Epub 2011 May 14. Mol Genet Metab. 2011. PMID: 21641253
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
Hsu TR, Hung SC, Chang FP, Yu WC, Sung SH, Hsu CL, Dzhagalov I, Yang CF, Chu TH, Lee HJ, Lu YH, Chang SK, Liao HC, Lin HY, Liao TC, Lee PC, Li HY, Yang AH, Ho HC, Chiang CC, Lin CY, Desnick RJ, Niu DM. Hsu TR, et al. Among authors: desnick rj. J Am Coll Cardiol. 2016 Dec 13;68(23):2554-2563. doi: 10.1016/j.jacc.2016.09.943. J Am Coll Cardiol. 2016. PMID: 27931613 Free article.
602 results