Rosella Tomanin

Padova, Italy

Last Updated: 09/26/2026

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Found 37 publications

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

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.

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: July 30, 2024

Challenges and opportunities in neurometabolic disease treatment with enzyme delivery.

Challenges and opportunities in neurometabolic disease treatment with enzyme delivery.

Journal: Expert opinion on drug delivery

Published: July 04, 2024

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model.

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model.

Journal: Biomolecules

Published: February 08, 2023

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes.

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes.

Journal: Scientific reports

Published: November 09, 2022

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.

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.

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

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.

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

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes.

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes.

Journal: Cells

Published: November 24, 2021

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.

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.

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

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.

Journal: Biomedicines

Published: January 17, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026