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106 results

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Page 1
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: pagliardini s. 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.
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Porta F, Pagliardini V, Celestino I, Pavanello E, Pagliardini S, Guardamagna O, Ponzone A, Spada M. Porta F, et al. Among authors: pagliardini v, pagliardini s. Mol Genet Metab Rep. 2017 Sep 20;13:80-82. doi: 10.1016/j.ymgmr.2017.08.005. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28971021 Free PMC article.
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.
Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Födinger M, Sunder-Plassmann G. Kotanko P, et al. Among authors: pagliardini s. J Am Soc Nephrol. 2004 May;15(5):1323-9. doi: 10.1097/01.asn.0000124671.61963.1e. J Am Soc Nephrol. 2004. PMID: 15100373
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
Kleinert J, Kotanko P, Spada M, Pagliardini S, Paschke E, Paul K, Voigtländer T, Wallner M, Kramar R, Stummvoll HK, Schwarz C, Horn S, Holzer H, Födinger M, Sunder-Plassmann G. Kleinert J, et al. Among authors: pagliardini s. Transpl Int. 2009 Mar;22(3):287-92. doi: 10.1111/j.1432-2277.2008.00791.x. Epub 2008 Oct 24. Transpl Int. 2009. PMID: 18954370 Free article.
Lysosomal enzyme activities in phenylketonuria.
Porta F, Pagliardini S, Pagliardini V, Dotta A, Mussa A, Spada M. Porta F, et al. Among authors: pagliardini v, pagliardini s. Mol Genet Metab. 2011 Apr;102(4):508. doi: 10.1016/j.ymgme.2011.01.014. Epub 2011 Feb 2. Mol Genet Metab. 2011. PMID: 21316999 No abstract available.
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C, Codini M, Filocamo M, Menghini AR, Pagliardini V, Pasqui S, Bembi B, Dardis A, Beccari T. Paciotti S, et al. Among authors: pagliardini v, pagliardini s. Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. doi: 10.1016/j.cca.2012.07.011. Epub 2012 Jul 20. Clin Chim Acta. 2012. PMID: 22820396
106 results