Francesco Porta

Summary

Publications

  1. doi request reprint Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy
    Ultrasound Med Biol 34:1049-52. 2008
  2. doi request reprint Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy Electronic address
    Eur J Paediatr Neurol 20:839-842. 2016
  3. doi request reprint Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy Electronic address
    J Pediatr 168:236-9.e1. 2016
  4. doi request reprint Genealogy of breastfeeding
    Francesco Porta
    Department of Pediatrics, Regina Margherita Children Hospital, University of Torino, Piazza Polonia 94, 10126, Torino, Italy
    Eur J Pediatr 175:105-12. 2016
  5. doi request reprint Newborn screening for galactosemia: a 30-year single center experience
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy
    World J Pediatr 11:160-4. 2015
  6. doi request reprint Short prolactin profile for monitoring treatment in BH4 deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy Electronic address
    Eur J Paediatr Neurol 19:360-3. 2015
  7. doi request reprint Dopamine agonists in dihydropteridine reductase deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Italy
    Mol Genet Metab 105:582-4. 2012
  8. doi request reprint Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria
    F Porta
    Department of Pediatrics, University of Turin, Turin, Italy
    J Inherit Metab Dis 31:S339-42. 2008
  9. doi request reprint Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy
    J Pediatr Gastroenterol Nutr 52:345-50. 2011
  10. doi request reprint Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency
    Alberto Ponzone
    Department of Pediatrics, University of Torino, Torino, Italy
    Metabolism 59:645-52. 2010

Collaborators

Detail Information

Publications21

  1. doi request reprint Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy
    Ultrasound Med Biol 34:1049-52. 2008
    ....
  2. doi request reprint Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy Electronic address
    Eur J Paediatr Neurol 20:839-842. 2016
    ..Low-dose pramipexole therapy (∼0.010 mg/kg/day) has been safe and clinically effective on long-term follow-up, representing a helpful therapeutic option in patients with BH4 deficiency...
  3. doi request reprint Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy Electronic address
    J Pediatr 168:236-9.e1. 2016
    ..Here we provide the clinical interpretation of the previously described short prolactin profile, based on the longitudinal monitoring of 8 patients with tetrahydrobiopterin deficiency. ..
  4. doi request reprint Genealogy of breastfeeding
    Francesco Porta
    Department of Pediatrics, Regina Margherita Children Hospital, University of Torino, Piazza Polonia 94, 10126, Torino, Italy
    Eur J Pediatr 175:105-12. 2016
    ..46 (95% CI 0.41-0.50; log-rank p < 0.0001). The rate of BF failures was fivefold higher in non-breastfed mothers, mostly occurring during lactogenesis when the let-down reflex becomes essential...
  5. doi request reprint Newborn screening for galactosemia: a 30-year single center experience
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy
    World J Pediatr 11:160-4. 2015
    ..In the last 50 years, many criticisms have been focused on the opportunity of its inclusion. Consequently, long-term single center experiences with this issue are generally lacking...
  6. doi request reprint Short prolactin profile for monitoring treatment in BH4 deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy Electronic address
    Eur J Paediatr Neurol 19:360-3. 2015
    ....
  7. doi request reprint Dopamine agonists in dihydropteridine reductase deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Italy
    Mol Genet Metab 105:582-4. 2012
    ..Dopamine agonists can improve or even replace L-dopa therapy in disorders of synthesis and regeneration of BH4...
  8. doi request reprint Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria
    F Porta
    Department of Pediatrics, University of Turin, Turin, Italy
    J Inherit Metab Dis 31:S339-42. 2008
    ..These findings could provide new insights into the biological mechanisms underlying bone damage in PKU...
  9. doi request reprint Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia
    Francesco Porta
    Department of Pediatrics, University of Torino, Torino, Italy
    J Pediatr Gastroenterol Nutr 52:345-50. 2011
    ..We aimed to assess bone condition in PKU and HPA by quantitative ultrasound (QUS), taking into account patients' clinical and biochemical features...
  10. doi request reprint Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency
    Alberto Ponzone
    Department of Pediatrics, University of Torino, Torino, Italy
    Metabolism 59:645-52. 2010
    ..The assessment of BH4 responsiveness by the methods so far used is not reliable, and the occurrence of BH4-responsive forms of PKU still has to be definitely proven...
  11. pmc Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase
    Ilaria Roato
    Center for Experimental Research and Medical Studies, A O U San Giovanni Battista, Torino, Italy
    PLoS ONE 5:e14167. 2010
    ..Phenylketonuria (PKU) is a rare inborn error of metabolism often complicated by a progressive bone impairment of uncertain etiology, as documented by both ionizing and non- ionizing techniques...
  12. doi request reprint Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria
    Alberto Ponzone
    Department of Pediatrics, University of Torino, Italy
    J Pediatr Gastroenterol Nutr 46:561-9. 2008
    ..To solve this question, phenotype, genotype, dietary Phe intake, timing of blood collection, and Phe metabolism were retrospectively analyzed in 21 phenylketonuria newborns and prospectively in 1...
  13. doi request reprint Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia
    Marco Spada
    Department of Pediatrics, University of Torino, Italy
    Mol Genet Metab 109:171-3. 2013
    ..Pompe's disease is an inherited metabolic myopathy caused by acid α-glucosidase deficiency. Early diagnosis optimizes the treatment effectiveness...
  14. doi request reprint Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment
    Alessandro Mussa
    Division of Pediatric Endocrinology, Department of Pediatric Endocrinology and Diabetology, University of Torino, Regina Margherita Children Hospital, Piazza Polonia 94, 10126, Torino, Italy
    Bone 46:1016-20. 2010
    ..We longitudinally assessed by Quantitative Ultrasound (QUS) skeletal modifications during this treatment...
  15. pmc Metabolic progression to clinical phenotype in classic Fabry disease
    Marco Spada
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy
    Ital J Pediatr 43:1. 2017
    ..Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood...
  16. ncbi request reprint Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism
    Alessandro Mussa
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino, Italy
    Endocr J 59:497-502. 2012
    ..This also implies that FH-II/III should be considered in the differential diagnosis of hypertensive children and, perhaps, that the offspring of patients with hyperaldosteronism should be screened for hypertension...
  17. pmc Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
    Cristina Lovera
    Department of Pediatrics, University of Torino, Regina Margherita Children s Hospital, Torino, Italy
    Ital J Pediatr 38:59. 2012
    ....
  18. doi request reprint Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure
    Alessandro Mussa
    Department of Pediatrics, University of Torino, Regina Margherita Children Hospital, Torino, Italy
    Ultrasound Med Biol 36:726-32. 2010
    ..Phalangeal QUS measurements of BTT and AD-SoS promise as a reliable method for obtaining quantitative measurements of bone disease in individuals with hypopituitarism but more studies are needed for verification...
  19. doi request reprint Remittent hyperammonemia in congenital portosystemic shunt
    Giovanni Battista Ferrero
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Torino, Italy
    Eur J Pediatr 169:369-72. 2010
    ....
  20. ncbi request reprint Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound
    Alessandro Mussa
    Department of Pediatric Endocrinology, Regina Margherita Children s Hospital, Torino, Italy
    Am J Kidney Dis 50:441-9. 2007
    ..Bone alterations in young renal transplant recipients were investigated in several studies with conflicting results. Quantitative ultrasound of the phalanges is a recently developed noninvasive procedure to assess skeletal status...
  21. ncbi request reprint Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
    Leandra Jäggi
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Mol Genet Metab 93:295-305. 2008
    ..Our data suggest that diagnosis within the first month of life is essential for a good outcome and that low CSF5 HIAA and HVA values in CSF could be an indicator for the ongoing developmental impairment..