Roberta Taurisano
Rome, Italy
Last Updated: 09/26/2026
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Found 26 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
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
Journal: Journal of inherited metabolic disease
Published: October 24, 2024
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.
Journal: Kidney international reports
Published: March 18, 2024
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.
Journal: Italian journal of pediatrics
Published: January 08, 2024
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
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
Hypoglycemia in a Pediatric Emergency Department: Single-Center Experience on 402 Children.
Journal: Pediatric emergency care
Published: December 04, 2020
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Journal: Journal of inherited metabolic disease
Published: June 22, 2020
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
Journal: Orphanet journal of rare diseases
Published: June 08, 2020
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Journal: Journal of inherited metabolic disease
Published: April 18, 2020
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Journal: American journal of medical genetics. Part A
Published: June 25, 2019
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 31, 2018
Last Updated: 09/26/2026