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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.
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.
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.
106 results