Giancarlo Parenti

Summary

Affiliation: Federico II University
Country: Italy

Publications

  1. ncbi New strategies for the treatment of lysosomal storage diseases (review)
    Giancarlo Parenti
    Department of Pediatrics, Federico II University, Naples, Italy
    Int J Mol Med 31:11-20. 2013
  2. ncbi Pompe disease: from new views on pathophysiology to innovative therapeutic strategies
    Giancarlo Parenti
    Department of Pediatrics, Federico II University, Naples, Italy
    Curr Pharm Biotechnol 12:902-15. 2011
  3. ncbi The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 156:663-70.e1. 2010
  4. ncbi Clinical phenotype of lathosterolosis
    Massimiliano Rossi
    Dipartimento di Pediatria, Federico II University, Naples, Italy, and Department of Radiology, Great Ormond Street Hospital for Children, London, UK
    Am J Med Genet A 143:2371-81. 2007
  5. ncbi A case of galactosemia misdiagnosed as cow's milk intolerance
    Roberto Della Casa
    Department of Pediatrics, Federico II University, Naples, Italy
    Ital J Pediatr 38:47. 2012
  6. ncbi Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
    Caterina Porto
    Department of Pediatrics, Federico II University, Via S Pansini 5, 80131 Naples, Italy
    J Inherit Metab Dis 35:513-20. 2012
  7. ncbi The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
    Simona Fecarotta
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 155:540-7. 2011
  8. ncbi The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
    Caterina Porto
    Department of Pediatrics, Federico II University, Naples, Italy
    Mol Ther 17:964-71. 2009
  9. ncbi Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    J Child Neurol 22:565-73. 2007
  10. ncbi Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine
    Caterina Porto
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Mol Ther 20:2201-11. 2012

Collaborators

Detail Information

Publications25

  1. ncbi New strategies for the treatment of lysosomal storage diseases (review)
    Giancarlo Parenti
    Department of Pediatrics, Federico II University, Naples, Italy
    Int J Mol Med 31:11-20. 2013
    ..The recent progress made in the treatment of LSDs represents a good model that may be extended to other genetic disorders...
  2. ncbi Pompe disease: from new views on pathophysiology to innovative therapeutic strategies
    Giancarlo Parenti
    Department of Pediatrics, Federico II University, Naples, Italy
    Curr Pharm Biotechnol 12:902-15. 2011
    ..Pre-clinical studies demonstrated a synergistic effect of pharmacological chaperones and ERT. Other approaches, also in a pre-clinical stage, include substrate reduction and gene therapy...
  3. ncbi The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 156:663-70.e1. 2010
    ..To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1)...
  4. ncbi Clinical phenotype of lathosterolosis
    Massimiliano Rossi
    Dipartimento di Pediatria, Federico II University, Naples, Italy, and Department of Radiology, Great Ormond Street Hospital for Children, London, UK
    Am J Med Genet A 143:2371-81. 2007
    ..This condition partially overlaps with other defects of sterol metabolism, suggesting intriguing pathogenic links among these conditions...
  5. ncbi A case of galactosemia misdiagnosed as cow's milk intolerance
    Roberto Della Casa
    Department of Pediatrics, Federico II University, Naples, Italy
    Ital J Pediatr 38:47. 2012
    ..This case exemplifies the problems in reaching a correct diagnosis in patients with metabolic diseases...
  6. ncbi Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
    Caterina Porto
    Department of Pediatrics, Federico II University, Via S Pansini 5, 80131 Naples, Italy
    J Inherit Metab Dis 35:513-20. 2012
    ..This study provides additional evidence for a synergistic effect between ERT and pharmacological chaperone therapy and supports the idea that the efficacy of combination protocols may be superior to ERT alone...
  7. ncbi The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
    Simona Fecarotta
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 155:540-7. 2011
    ..We suggest that the videofluoroscopic study of swallowing should be routinely used to monitor the effects of treatment on swallowing ability in NPC patients...
  8. ncbi The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
    Caterina Porto
    Department of Pediatrics, Federico II University, Naples, Italy
    Mol Ther 17:964-71. 2009
    ..A synergistic effect of these treatments may result particularly useful in patients responding poorly to therapy and in tissues in which sufficient enzyme levels are difficult to obtain...
  9. ncbi Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    J Child Neurol 22:565-73. 2007
    ..The recombinant enzyme derived from Chinese hamster ovary cells, administered at doses significantly higher than previously reported, appears to have the same safety as the drug derived from rabbit milk...
  10. ncbi Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine
    Caterina Porto
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Mol Ther 20:2201-11. 2012
    ..In a PD mouse model the combination of NAC and rhGAA resulted in better correction of enzyme activity in liver, heart, diaphragm and gastrocnemia, compared to rhGAA alone...
  11. ncbi Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease
    Paola Di Natale
    Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
    Biotechnol Appl Biochem 49:219-23. 2008
    ..In addition to its role as a potential biomarker, TNFalpha expression could provide insights into the possible pathophysiological mechanisms underlying the mucopolysaccharidoses...
  12. ncbi Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 150:300-5, 305.e1. 2007
    ..To investigate the hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type 1(GSD1)...
  13. ncbi Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease
    Giancarlo Parenti
    Department of Pediatrics, Federico II University, Naples, Italy
    Mol Ther 15:508-14. 2007
    ..These results provide a rationale for an alternative treatment, other than enzyme replacement, to Pompe disease...
  14. ncbi Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation
    Donatella Capalbo
    Department of Pediatrics, University of Naples Federico II, 80131 Naples, Italy
    Int J Endocrinol 2012:353250. 2012
    ..The aim of this paper is to give an overview on the clinical presentation and diagnostic criteria of APECED and to focus on current knowledge on genotype-phenotype correlation...
  15. ncbi Therapeutic options in pediatric non alcoholic fatty liver disease: current status and future directions
    Pietro Vajro
    Medical School of the University of Salerno, Salerno, Italy
    Ital J Pediatr 38:55. 2012
    ..Toll-like receptors modifiers, Pentoxifylline, and Farnesoid X receptors agonists have been still poorly investigated, and will need further studies before becoming possible promising innovative therapeutic strategies...
  16. ncbi Precocious puberty in Turner Syndrome: report of a case and review of the literature
    Nicola Improda
    Department of Pediatrics, Federico II University of Naples, Naples, Italy
    Ital J Pediatr 38:54. 2012
    ..Approximately one third of girls with TS may undergo spontaneous puberty. Here we report on the case of a girl with a rare 45X0/47XXX mosaic TS exhibiting a precocious puberty...
  17. ncbi Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
    Aurora Daniele
    CEINGE Biotecnologie Avanzate scarl, Naples, Italy
    FEBS J 276:2048-59. 2009
    ..However, genotype-phenotype discordance occurred in approximately 25% of our patients, mainly those bearing mutations p.L48S, p.R158Q, p.R261Q and p.P281L...
  18. ncbi Universal screening for inherited metabolic diseases in the neonate (and the fetus)
    Iris Scala
    Department of Pediatrics, Federico II University, Naples, Italy
    J Matern Fetal Neonatal Med 25:4-6. 2012
    ..These high-throughput methods applied to neonatal and non-invasive prenatal screening of genetic diseases, including inborn errors of metabolism, are raising further technical, political and ethical issues...
  19. ncbi Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
    Giancarlo Parenti
    Telethon Institute of Genetics and Medicine, Naples, Italy
    EMBO Mol Med 1:268-79. 2009
    ....
  20. ncbi Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 132:144-51. 2005
    ..Periodic liver function evaluations are recommended in these patients...
  21. ncbi Study of multimodal evoked potentials in patients with type 1 Gaucher's disease
    Anna Perretti
    Department of Neurological Sciences, Federico II University, Naples, Italy
    J Child Neurol 20:124-8. 2005
    ..Early detection of subclinical neurologic dysfunction can be useful in view of more effective therapeutic strategies...
  22. ncbi Growth hormone deficiency in a patient with lysinuric protein intolerance
    Valentina Esposito
    Department of Pediatrics, Federico II University of Naples, Via S. Pansini 5-80131, Naples, Italy
    Eur J Pediatr 165:763-6. 2006
    ..CONCLUSION: While it is not known whether the mechanisms involved in the GHD of our patient are related to LPI, this case suggests that GH/IGF-I axis should be investigated in LPI children with persistent growth failure...
  23. ncbi Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation
    Claudia Mandato
    Department of Pediatrics, University of Naples Federico II, Italy
    Pediatr Res 59:293-8. 2006
    ..Clinicians are encouraged to test such patients for abnormal Tf glycosylation by ESI-MS...
  24. ncbi Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient
    Guglielmo R D Villani
    Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
    Genet Test Mol Biomarkers 14:113-20. 2010
    ..We stress that extensive DNA analysis needs to be performed in case of apparent homozygosity to avoid potential errors in genetic counseling...
  25. ncbi Brain damage in glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, , Naples, Italy
    J Pediatr 144:637-42. 2004
    ..05). CONCLUSIONS: Brain damage, probably caused by recurrent severe hypoglycemia, may be present in patients with GSDI...