Alessandra Zanetti
Padova, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 20 publications
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Journal: Human genomics
Published: September 10, 2024
Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.
Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
Published: July 30, 2024
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model.
Journal: Biomolecules
Published: February 08, 2023
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.
Journal: Stem cell research
Published: June 12, 2022
Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.
Journal: Journal of molecular medicine (Berlin, Germany)
Published: February 08, 2022
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
Journal: International journal of molecular sciences
Published: September 30, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Journal: Human mutation
Published: March 31, 2021
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
Journal: International journal of molecular sciences
Published: January 17, 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
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Journal: Human mutation
Published: May 14, 2018
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.
Journal: International journal of molecular sciences
Published: March 14, 2017
Last Updated: 09/26/2026