Angelica Rampazzo
Padova, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
Journal: Orphanet journal of rare diseases
Published: January 20, 2022
Morquio B disease: From pathophysiology towards diagnosis.
Journal: Molecular genetics and metabolism
Published: November 12, 2020
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Journal: The Journal of molecular diagnostics : JMD
Published: April 05, 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Journal: European journal of pediatrics
Published: October 18, 2018
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Journal: Metabolic brain disease
Published: April 04, 2017
The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses.
Journal: Case reports in pediatrics
Published: January 30, 2017
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
Journal: Orphanet journal of rare diseases
Published: May 07, 2014
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
Journal: JIMD reports
Published: December 10, 2013
Nocturnal frontal lobe epilepsy in mucopolysaccharidosis.
Journal: Brain & development
Published: July 25, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndrome.
Journal: JIMD reports
Published: February 03, 2013
The role of visual electrophysiology in mucopolysaccharidoses.
Journal: Journal of child neurology
Published: August 24, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026