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Scuola di Dottorato

Ph.D. Program in Biomedical Sciences and Oncology

Logo di Ph.D. Program in Biomedical Sciences and Oncology

Francesco Porta

  • Dottorato: 27° ciclo
  • Matricola: 300497

Attività di ricerca

 

    1. 1.      Porta F, Ponzone A, Spada M. Target prolactin range in treatment of tetrahydrobiopterin deficiency. J Pediatr. 2015 In press.
    2. 2.      Porta F, Mussa A, Baldassarre G, Perduca V, Farina D, Spada M, Ponzone A. Genealogy of breastfeeding. Eur J Pediatr. 2015 In press.
    3. 3.      Spada M, Calvo PL, Brunati A, Peruzzi L, dell’Olio D, Romagnoli R, Porta F. Liver transplantation in severe methylmalonic acidemia: the sooner, the better. J Pediatr. 2015 In press.
    4. 4.      Spada M, Calvo PL, Brunati A, Peruzzi L, dell’Olio D, Romagnoli R, Porta F. Early liver transplantation for neonatal-onset methylmalonic acidemia. Pediatrics. 2015 In press.
    5. 5.      Porta F, Ponzone A, Spada M. Short prolactin profile for monitoring treatment in BH4 deficiency. Eur J Paediatr Neurol. 2015. In press
    6. 6.      Porta F, Pagliardini V, Roasio L, Biamino E, Spada M. Playing competitive basketball in face of later-onset Pompe disease. Muscle Nerve. 2015 Feb;51(2):302-3.
    7. 7.      Porta F, Pagliardini V, Pagliardini S, Ponzone A, Spada M. Newborn screening for galactosemia: a 30 years single Centre experience. World J Pediatr. 2015. In Press.
    8. 8.      Mussa A, Baldassarre G, Porta F. Fracture odds and body mass index in children. J Pediatr. 2014. pii: S0022-3476(14)00747-1.
    9. 9.      Porta F, Volpe V. Weaning the normal infant. Acta Paediatr. 2014 Apr;103(4):353-5.
    10. 10.  Porta F, Volpe V. Feeding the normal newborn: whose art is it? Acta Paediatr. 2013 Jun 3. doi: 10.1111/apa.12309.
    11. 11.  Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39(1):33
    12. 12.  Spada M, Porta F, Vercelli L, Pagliardini V, Chiadò-Piat L, Boffi P, Pagliardini S, Remiche G, Ronchi D, Comi G, Mongini T. Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab. 2013 Mar 14. doi:pii: S1096-7192(13)00091-7. 10.1016/j.ymgme.2013.03.002.
    13. 13.  Spada M, Enea A, Morrone A, Fea A, Porta F. Cornea verticillata and Fabry disease. J Pediatr. 2013. pii: S0022-3476(13)00289-8. doi: 10.1016/j.jpeds.2013.03.013
    14. 14.  Porta F, Mussa A, Spada M. Later effects of metabolic control in phenylketonuria. Mol Genet Metab. 2013 May;109(1):118
    15. 15.  Spada M, Garelli D, Riggi C, Pagliardini V, Lualdi S, Filocamo M, Porta F. Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe’s disease. Mol Genet Metab. 2012 Dec;107(4):763.
    16. 16.  Porta F, Pagliardini V, Barbera C, Calvo P, Pagliardini S, Lualdi S, Filocamo M, Spada M. Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders. Mol Genet Metab. 2013 Jan;108(1):106.
    17. 17.  Lovera C, Porta F, Caciotti A, Catarzi S, Cassanello M, Caruso U, Gallina MR, Morrone A, Spada M. Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. Ital J Pediatr. 2012 Oct 24;38(1):59.
    18. 18.  Porta F, Mussa A. Bed-sharing is bad-sharing. Pediatrics. 2012; http://pediatrics.aappublications.org/content/129/4/630/reply#pediatrics_el_53637.
    19. 19.  Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Dopamine agonists in dihydropteridine reductase deficiency. Mol Genet Metab. 2012;105(4):582-4.
    20. 20.  Mussa A, Camilla R, Monticone S, Porta F, Tessaris D, Verna F, Mulatero P, Einaudi S. Polyuric-polydipsic syndrome in a pediatric case of non-glucocordicoid remediable Familial Hyperaldosteronism. Endocr J. 2012 Jun 30;59(6):497-502.
    21. 21.  Mussa A, Porta F, Baldassarre G, Tuli G, de Terlizzi F, Matarazzo P, Einaudi S, Lala R, Corrias A. Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders. Osteoporos Int. 2012 Jul;23(7):1987-98.
    22. 22.  Mussa A, Porta F, Baldassarre G, Corrias A. Determinants of thyrotropin rise in congenital hypothyroidism. J Pediatr. 2011; 159(6):1050.
    23. 23.  Porta F, Mussa A, Pagliardini S, Dotta A, Pagliardini V, Spada M. Lysosomal enzyme activities in phenylketonuria. Mol Genet Metab. 2011;102(4):508.
    24. 24.  Porta F, Mussa A, Garelli D, Spada M. Phenotyping and treatment of phenylketonuria. Lancet 2011;5;377(9764):465.
    25. 25.  Porta F, Spada M, Garelli D, Mussa A, Ponzone A. Tetrahydrobiopterin and phenylketonuria. J Pediatr. 2011;158(5):864.
    26. 26.  Porta F, Roato I, Mussa A, D'amico L, Fiore L, Spada M, Garelli D, Ferracini R. Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. PLoS One. 2010;30;5(11):e14167.
    27. 27.  Porta F, Mussa A, Zanin A, Greggio NA, Burlina A, Spada M. Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. J Pediatr Gastroenterol Nutr. 2011;52(3):345-50.
    28. 28.  Mussa A, Bertorello N, Porta F,  Galletto C, Nicolosi MG, Manicone R, Corrias A, Fagioli F. Fractures and skeletal complications should be the gold standard for validation of methods for bone appraisal in pediatrics. Bone. 2010 In press.
    29. 29.  Mussa A, Repici M, Fiore L, Tuli G, Porta F, Matarazzo P.  Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. Ultrasound Med Biol. 2010;36(5):726-32.
    30. 30.  Mussa A, Chiesa N, Porta F, Baldassarre G, Silengo M, Ferrero GB. The overlap between Sotos and Beckwitt-Wiedemann syndromes. J Pediatr. 2010;156(6):1035-6.
    31. 31.  Porta F, Mussa A, Ponzone A. Breastfeeding effects on newborn screening. J Pediatr. 2010;156(6):1033.
    32. 32.  Mussa A, Bertorello N, Porta F,  Galletto C, Nicolosi MG, Manicone R, Corrias A, Fagioli F. Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment. Bone. 2010;46:1016-20.
    33. 33.  Leuzzi V, Carducci C, Carducci C, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati A, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antoniozzi I, Blau N.  Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet. 2010;77(3):249-57.
    34. 34.  Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. Metabolism. 2010;59:645-52.
    35. 35.  Ferrero GB, Porta F, Biamino E, Mussa A, Garelli E, Chiappe F, Veltri A, Cirillo Silengo M, Gennari F. Remittent hyperammonemia in congenital portosystemic shunt. Eur J Pediatr. 2009:169:369-72.
    36. 36.  Ponzone A, Mussa A, Porta F. 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. Inherit Metab Dis. 2009;32:584.
    37. 37.  Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. Neurology. 2009;73:633-7.
    38. 38.  Porta F, Roato I, Mussa A, Repici M, Gorassini E, Spada M, Ferracini R. Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. J Inherit Metab Dis. 2008; DOI: 10.1007/s10545-008-0907-9.
    39. 39.  Porta F, Spada M, Lala R, Mussa A. Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. Ultrasound Med Biol. 2008;34:1049-52.
    40. 40.  Ponzone A, Spada M, Roasio L, Porta F, Mussa A, Ferraris S. Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. J Pediatr Gastroenterol Nutr. 2008;46:561-9.
    41. 41.  Ferrero GB, Pagliardini S, Veljkovic A, Porta F, Bena C, Tardivo I, Restagno G, Silengo MC, Bignamini E. In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis. Mol Genet Metab. 2008;94:139.
    42. 42.  Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab. 2008;93:295-305.
    43. 43.  Mussa A, Porta F, Gianoglio B, Gaido M, Nicolosi MG, De Terlizzi F, de Sanctis C, Coppo R. Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. Am J Kidney Dis. 2007;50:441-9. 

     

     Book Chapters

    Porta F. Medicina metabolomica. Lessico del XXI secolo, Treccani, 2013.

    Porta F, Mussa A. Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders. In: Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition. Sarafoglou K, Hoffman G, Roth K, eds. Mcgraw Hill, In Press.

     

     

    1. Raymond K, Porta F, Turgeon C, Magera MJ, Liedtke K, Gavrilov D, Oglesbee D, Tortorelli S, Rinaldo P, Matern D. Simultaneous transferrin and apolipoprotein cIII glycoforms analysis by online immuno-affinity chromatography electrospray ionization mass spectrometry. J Inherit Metab Dis 2013 (Supplement 2): 238.
    2. Spada M, Vercelli L, Mongini T, Porta F. Symptomatic carriers of Pompe disease revealed by selective screening in hyperCKemia. J Inherit Metab Dis 2013  (Supplement 1).
    3. Porta F, Turgeon C, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K. Advances in the diagnosis of congenital disorders of glycosylation. J Inherit Metab Dis 2010  (Supplement 1).
    4. Porta F, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Expanded newborn screening in the NICU. J Inherit Metab Dis 2010 (Supplement 1).
    5. Garelli D, Pagliardini V, Ignaccolo MG, Mussa A, Porta F, Meli C, Ponzone A, Spada M. Screening for BH4 responsiveness in PKU: results from a quantitative method. J Inherit Metab Dis 2010 (Supplement 1).
    6. Mussa A, Roato I, Spada M, Ferracini R, Porta F. Increased spontaneous osteoclastogenesis in PKU. Mol Genet Metab 2010 99: 227.
    7. Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Pramipexole in dihydropteridine reductase deficiency. Mol Genet Metab 2010 99: 230
    8. Leuzzi V, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Ponzone A, Porta F, Strisciuglio P, Carducci C, Carducci C, Vagnoni C, Pozzessere S, Antoniozzi I. The phenotypic variability in 6-pyruvoiltetrahydrobiopterin synthase (PTPS) deficiency (PTPSD). Clinical presentation and outcome of the italian patients. J Inherit Metab Dis 2008 31 (Supplement 1): 76
    9. Jaggi L, Zulfluh MR, Schuler A, Ponzone A, Porta F, Salvatici E, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N. Long-term follow-up and out come of patients with tetrahydrobiopterin deficiency. J Inherit Metab Dis 2008 31 (Supplement 1): 83
    10. Porta F, Roato I, Spada M, Ferracini R, Mussa A. Increased spontaneous osteoclastogenesis in phenylketonuria. J Inherit Metab Dis 2008 31 (Supplement 1): 74
    11. Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Pramipexole in tetrahydrobiopterin deficiency. J Inherit Metab Dis 2008 31 (Supplement 1): 137
    12. Porta F, Mussa A, Spada M, Ponzone A. Ineffectiveness of tetrahydrobiopterin in phenylalanine hydroxylase deficiency. J Inherit Metab Dis 2008 31 (Supplement 1): 80
    13. Porta F, Mussa A, Spada M, Ponzone A. Dopamine agonists in tetrahydrobiopterin deficiency. J Inherit Metab Dis 2007 30 (Supplement 1): 138
    14. Porta F, Mussa A, Ferraris S, Spada M, Ponzone A. "Responsiveness" and unresponsiveness to BH4 of PAH deficiency. J Inherit Metab Dis 2007 30 (Supplement 1): 16
    15. Porta F, Spada M, Baldassarre G, De Sanctis C, Mussa A. Bone condition at phalangeal quantitative ultrasound in phenylketonuria. J Inherit Metab Dis 2006: 98
    16. Porta F, Alluto A, Mussa A, Spada M, Ponzone A. A comparison between simple and combined loading test in phenylketonuria. J Inherit Metab Dis 2006: 70
    17. Mussa A, Porta F, Gianoglio B, Gaido M, Camilla R, De Terlizzi F, Amore A. Bone condition in pediatric renal transplant recipient (PRTR): evaluation with quantitative ultrasound. Pediatr Nephrol 2006 21: 1505.

     

  1. Porta F. Fabry disease. Lecture at the Congress “Clinical practice in Pediatrics”, 2015, Milano, Italy.
  2. Porta F. Galactosemia. Lecture at the Italian Society for the Study of Inborn Errors of Metabolism Congress, 2014, Milano, Italy.
  3. Porta F.Dopamineagonists in BH4 deficiency. Communication at the Italian Society for the Study of Inborn Errors of Metabolism Congress, 2013, Napoli, Italy.
  4. Porta F.Congenital disorders of glycosylation and cutis laxa. Case conference at Mayo Clinic College of Medicine, 2011, Rochester, MN, USA.
  5. Porta F. Mucopolysaccharidosis:Hurler, Hunter, and Maroteaux-Lamy. Case conference at Mayo Clinic College of Medicine, 2010, Rochester, MN, USA.
  6. Porta F.Ineffectiveness of tetrahydrobiopterin in phenylalanine hydroxylase deficiency. Communication at the International Congress of Inborn Errors of Metabolism, 2008, Lisboa, Portugal.
  7. Porta F. Pramipexole in tetrahydrobiopterin deficiency. Communication at the International Congress of Inborn Errors of Metabolism, 2008, Lisboa, Portugal.
  8. Porta F. In vivo specific reduction of ARSB in patients with cystic fibrosis. Communication at the Italian Society for the Study of Inborn Errors of Metabolism Congress, 2007, Roma, Italy.
  9. Porta F. A comparison between simple and combined loading test in phenylketonuria. Communication at the International Congress of Inborn Errors of Metabolism, 2006, Chiba, Japan.
  10. Porta F.Hematological and neurological manifestations of vitamin B12 deficiency. Communication at the National Congress of the Italian Society of Pediatrics, 2006, Savigliano, Italy.
  11. Porta F.Rhabdomyolisis and CPTII deficiency. Communication at the Italian Society for the Study of Inborn Errors of Metabolism Congress, 2005, Pollenzo, Italy.

Neurometabolic disorders course - 2009, Barcelona, Spain.

Expanded newborn screening training course - 2010, Mayo Clinic, Rochester, MN, USA.

 

2009-2010: Visiting Scientist, Mayo Clinic College of Medicine, Rochester, MN

Ultimo aggiornamento: 10/11/2015 19:06
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