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. ncbi 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
  4. 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
  5. 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
  6. 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

Publications6

  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. ncbi 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...
  4. 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...
  5. 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
    ....
  6. 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...