Agata Fiumara
Catania, Italy
Last Updated: 09/26/2026
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Found 85 publications
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.
Journal: Orphanet journal of rare diseases
Published: June 07, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.
Journal: Journal of neurology
Published: March 03, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Journal: Orphanet journal of rare diseases
Published: December 26, 2023
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Journal: Molecular genetics and metabolism reports
Published: October 10, 2023
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Journal: Orphanet journal of rare diseases
Published: June 28, 2023
Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance.
Journal: European journal of haematology
Published: June 19, 2023
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.
Journal: Orphanet journal of rare diseases
Published: June 04, 2023
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic.
Journal: Healthcare (Basel, Switzerland)
Published: February 08, 2023
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Journal: Internal and emergency medicine
Published: October 21, 2022
Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study.
Journal: Clinical biomechanics (Bristol, Avon)
Published: October 05, 2022
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
Journal: Orphanet journal of rare diseases
Published: October 04, 2022
Last Updated: 09/26/2026