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Page 1
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.
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. 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.
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
Early higher dosage of alglucosidase alpha in classic Pompe disease.
Spada M, Pagliardini V, Ricci F, Biamino E, Mongini T, Porta F. Spada M, et al. Among authors: pagliardini v. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1343-1347. doi: 10.1515/jpem-2018-0336. J Pediatr Endocrinol Metab. 2018. PMID: 30433875
Playing competitive basketball in face of late-onset pompe disease.
Porta F, Pagliardini V, Roasio L, Biamino E, Spada M. Porta F, et al. Among authors: pagliardini v. Muscle Nerve. 2015 Feb;51(2):302-3. doi: 10.1002/mus.24522. Epub 2014 Dec 23. Muscle Nerve. 2015. PMID: 25399823 No abstract available.
20 results