Giovanni Ciana

Summary

Country: Italy

Publications

  1. pmc Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome
    G Ciana
    Centro di Coordinamento Regionale Malattie Rare, Azienda Ospedaliera Universitaria S Maria della Misericordia di Udine, Piazzale S Maria della Misericordia, 33100 Udine, Italy
    Case Rep Pediatr 2011:981941. 2011
  2. doi request reprint Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients
    Giovanni Ciana
    Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy
    J Inherit Metab Dis 35:1101-6. 2012
  3. doi request reprint Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
    Annalisa Sechi
    Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy Electronic address
    Mol Genet Metab 113:213-8. 2014
  4. doi request reprint Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
    Laura Deroma
    Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Ple Santa Maria della Misericordia 15, Udine, 33100, Italy
    Eur J Pediatr 173:805-13. 2014
  5. pmc Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients
    Laura Deroma
    Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, Udine, 33100, Italy
    JIMD Rep 7:117-22. 2013
  6. doi request reprint Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme
    Andrea Dardis
    Regional Coordination Centre for Rare Diseases, University Hospital S Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy
    Mol Genet Metab 97:309-11. 2009
  7. doi request reprint Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
    Bruno Bembi
    Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy
    J Inherit Metab Dis 33:727-35. 2010

Collaborators

Detail Information

Publications7

  1. pmc Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome
    G Ciana
    Centro di Coordinamento Regionale Malattie Rare, Azienda Ospedaliera Universitaria S Maria della Misericordia di Udine, Piazzale S Maria della Misericordia, 33100 Udine, Italy
    Case Rep Pediatr 2011:981941. 2011
    ..Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS...
  2. doi request reprint Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients
    Giovanni Ciana
    Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy
    J Inherit Metab Dis 35:1101-6. 2012
    ..Moreover, the persistence of residual disease activity may affect normal bone growth during puberty in GD populations...
  3. doi request reprint Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
    Annalisa Sechi
    Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy Electronic address
    Mol Genet Metab 113:213-8. 2014
    ..A possible role of genotype in determining the response to ERT has been hypothesised...
  4. doi request reprint Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
    Laura Deroma
    Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Ple Santa Maria della Misericordia 15, Udine, 33100, Italy
    Eur J Pediatr 173:805-13. 2014
    ..Muscle enzymes levels showed a clear decrease after the 1st year of treatment while remained stable afterwards. An overall decrease in BMI was also observed during follow-up, although at the individual level, trends were variable...
  5. pmc Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients
    Laura Deroma
    Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, Udine, 33100, Italy
    JIMD Rep 7:117-22. 2013
    ..Thus, bone pain, general health and quality of life should be carefully monitored during ERT reductions...
  6. doi request reprint Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme
    Andrea Dardis
    Regional Coordination Centre for Rare Diseases, University Hospital S Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy
    Mol Genet Metab 97:309-11. 2009
    ....
  7. doi request reprint Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
    Bruno Bembi
    Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy
    J Inherit Metab Dis 33:727-35. 2010
    ..Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII...