Giovanni Ciana
Udine, 33100, Italy
Last Updated: 09/26/2026
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Found 10 publications
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Journal: International journal of molecular sciences
Published: April 19, 2021
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.
Journal: Molecular genetics and metabolism reports
Published: October 16, 2020
Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.
Journal: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research
Published: January 29, 2019
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
Journal: Clinical genetics
Published: August 20, 2018
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Journal: Orphanet journal of rare diseases
Published: June 08, 2017
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Journal: JIMD reports
Published: November 18, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.
Journal: Molecular genetics and metabolism
Published: May 12, 2014
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
Journal: European journal of pediatrics
Published: September 30, 2013
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.
Journal: JIMD reports
Published: May 09, 2012
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.
Journal: Journal of inherited metabolic disease
Published: October 25, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026