Spada M - Search Results

1

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Tucci S, Wagner C, Grünert SC, Matysiak U, Weinhold N, Klein J, Porta F, Spada M, Bordugo A, Rodella G, Furlan F, Sajeva A, Menni F, Spiekerkoetter U. Tucci S, et al. Among authors: spada m. J Inherit Metab Dis. 2021 Jul;44(4):916-925. doi: 10.1002/jimd.12368. Epub 2021 Feb 25. J Inherit Metab Dis. 2021. PMID: 33580884

2

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin.

Spada M, Ferraris S, Ferrero GB, Sartore M, Lanza C, Perfetto F, de Sanctis L, Dompé C, Blau N, Ponzone A. Spada M, et al. J Inherit Metab Dis. 1996;19(2):231-3. doi: 10.1007/BF01799437. J Inherit Metab Dis. 1996. PMID: 8739973 No abstract available.

3

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.

Spada M, Dianzani I, Bonetti G, Biondi A, Leone L, Giannattasio S, Ponzone A. Spada M, et al. J Inherit Metab Dis. 1998 Jun;21(3):236-9. doi: 10.1023/a:1005355802928. J Inherit Metab Dis. 1998. PMID: 9686365 No abstract available.

4

Genotype-phenotype correlation in dihydropteridine reductase deficiency.

de Sanctis L, Alliaudi C, Spada M, Farrugia R, Cerone R, Biasucci G, Meli C, Zammarchi E, Coskun T, Blau N, Ponzone A, Dianzani I. de Sanctis L, et al. Among authors: spada m. J Inherit Metab Dis. 2000 Jun;23(4):333-7. doi: 10.1023/a:1005662710891. J Inherit Metab Dis. 2000. PMID: 10896287 No abstract available.

5

Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study.

Porta F, Spada M, Lala R, Mussa A. Porta F, et al. Among authors: spada m. Ultrasound Med Biol. 2008 Jul;34(7):1049-52. doi: 10.1016/j.ultrasmedbio.2007.12.013. Epub 2008 Mar 3. Ultrasound Med Biol. 2008. PMID: 18313203

6

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

7

Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria.

Porta F, Roato I, Mussa A, Repici M, Gorassini E, Spada M, Ferracini R. Porta F, et al. Among authors: spada m. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S339-42. doi: 10.1007/s10545-008-0907-9. Epub 2008 Oct 17. J Inherit Metab Dis. 2008. PMID: 18923919

8

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Porta F, et al. Among authors: spada m. Neurology. 2009 Aug 25;73(8):633-7. doi: 10.1212/WNL.0b013e3181b38983. Neurology. 2009. PMID: 19704083

9

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

10

Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.

Porta F, Mussa A, Zanin A, Greggio NA, Burlina A, Spada M. Porta F, et al. Among authors: spada m. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):345-50. doi: 10.1097/MPG.0b013e3182093b32. J Pediatr Gastroenterol Nutr. 2011. PMID: 21336059

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