Spada M - Search Results

1

Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

Porta F, Pagliardini V, Barbera C, Calvo P, Pagliardini S, Lualdi S, Filocamo M, Spada M. Porta F, et al. Among authors: spada m. Mol Genet Metab. 2013 Jan;108(1):106. doi: 10.1016/j.ymgme.2012.11.004. Epub 2012 Nov 16. Mol Genet Metab. 2013. PMID: 23228552 No abstract available.

2

Hair changes in congenital disorders of glycosylation (CDG type 1).

Silengo M, Valenzise M, Pagliardini S, Spada M. Silengo M, et al. Among authors: spada m. Eur J Pediatr. 2003 Feb;162(2):114-5. doi: 10.1007/s00431-002-1054-1. Eur J Pediatr. 2003. PMID: 12607543 No abstract available.

3

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. 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.

4

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.

Ponzone A, Spada M, Roasio L, Porta F, Mussa A, Ferraris S. Ponzone A, et al. Among authors: spada m. J Pediatr Gastroenterol Nutr. 2008 May;46(5):561-9. doi: 10.1097/MPG.0b013e31815eead6. J Pediatr Gastroenterol Nutr. 2008. PMID: 18493213

5

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M. Ponzone A, et al. Among authors: spada m. Metabolism. 2010 May;59(5):645-52. doi: 10.1016/j.metabol.2009.09.008. Epub 2009 Nov 14. Metabolism. 2010. PMID: 19913839

6

Lysosomal enzyme activities in phenylketonuria.

Porta F, Pagliardini S, Pagliardini V, Dotta A, Mussa A, Spada M. Porta F, et al. Among authors: spada m. 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.

7

Dopamine agonists in dihydropteridine reductase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Porta F, et al. Among authors: spada m. Mol Genet Metab. 2012 Apr;105(4):582-4. doi: 10.1016/j.ymgme.2012.01.013. Epub 2012 Jan 25. Mol Genet Metab. 2012. PMID: 22325981

8

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease.

Spada M, Garelli D, Riggi C, Pagliardini V, Lualdi S, Filocamo M, Porta F. Spada M, et al. Mol Genet Metab. 2012 Dec;107(4):763. doi: 10.1016/j.ymgme.2012.10.001. Epub 2012 Oct 11. Mol Genet Metab. 2012. PMID: 23088900 No abstract available.

9

Later effects of metabolic control in phenylketonuria.

Porta F, Mussa A, Spada M. Porta F, et al. Among authors: spada m. Mol Genet Metab. 2013 May;109(1):118. doi: 10.1016/j.ymgme.2013.02.007. Epub 2013 Feb 20. Mol Genet Metab. 2013. PMID: 23562163 No abstract available.

10

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

Spada M, Porta F, Vercelli L, Pagliardini V, Chiadò-Piat L, Boffi P, Pagliardini S, Remiche G, Ronchi D, Comi G, Mongini T. Spada M, et al. Mol Genet Metab. 2013 Jun;109(2):171-3. doi: 10.1016/j.ymgme.2013.03.002. Epub 2013 Mar 14. Mol Genet Metab. 2013. PMID: 23566438

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