Porta F - Search Results

1

In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).

Ponzone A, Mussa A, Porta F. Ponzone A, et al. Among authors: porta f. J Inherit Metab Dis. 2009 Aug;32(4):584; author reply 585-6. doi: 10.1007/s10545-009-9959-8. J Inherit Metab Dis. 2009. PMID: 19609712 No abstract available.

2

Tetrahydrobiopterin and phenylketonuria.

Porta F, Spada M, Garelli D, Mussa A, Ponzone A. Porta F, et al. J Pediatr. 2011 May;158(5):864; author reply 864-5. doi: 10.1016/j.jpeds.2010.12.002. Epub 2011 Feb 15. J Pediatr. 2011. PMID: 21324389 No abstract available.

3

Neonatal phenylalanine wash-out in phenylketonuria.

Porta F, Ponzone A, Spada M. Porta F, et al. Metab Brain Dis. 2020 Oct;35(7):1225-1229. doi: 10.1007/s11011-020-00602-6. Epub 2020 Jul 13. Metab Brain Dis. 2020. PMID: 32661828

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: porta f. 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: porta f. Metabolism. 2010 May;59(5):645-52. doi: 10.1016/j.metabol.2009.09.008. Epub 2009 Nov 14. Metabolism. 2010. PMID: 19913839

6

Phenotyping and treatment of phenylketonuria.

Porta F, Mussa A, Garelli D, Spada M. Porta F, et al. Lancet. 2011 Feb 5;377(9764):465; author reply 466. doi: 10.1016/S0140-6736(11)60157-8. Lancet. 2011. PMID: 21296231 No abstract available.

7

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.

Porta F, Spada M, Ponzone A. Porta F, et al. Pediatrics. 2017 Aug;140(2):e20161591. doi: 10.1542/peds.2016-1591. Epub 2017 Jul 5. Pediatrics. 2017. PMID: 28679641

8

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. 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

9

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

Porta F, Spada M, Lala R, Mussa A. Porta F, et al. 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

10

Dopamine agonists in dihydropteridine reductase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Porta F, et al. 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

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