Alessandro P. Burlina
St. Bassiano Hospital, Via Dei Lotti, 40
Bassano Del Grappa, 36061, Italy
Bassano Del Grappa, 36061, Italy
Last Updated: 09/26/2026
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Found 87 publications
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase.
Journal: Molecular genetics and metabolism reports
Published: March 23, 2026
Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening.
Journal: Molecular genetics and metabolism
Published: December 22, 2025
Pachymeningeal Involvement in POEMS Syndrome: Longitudinal Follow-Up Study and Correlation With Therapeutic Response.
Journal: Journal of the peripheral nervous system : JPNS
Published: September 27, 2025
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.
Journal: Genetics in medicine open
Published: September 16, 2025
Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.
Journal: Orphanet journal of rare diseases
Published: September 12, 2025
Prognostic role of myocardial storage, hypertrophy, and inflammation/fibrosis in Fabry cardiomyopathy: a new predictive score including T1 values.
Journal: European heart journal. Quality of care & clinical outcomes
Published: July 04, 2025
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.
Journal: Journal of inherited metabolic disease
Published: July 02, 2025
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.
Journal: Genetics in medicine open
Published: April 15, 2025
Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.
Journal: International journal of neonatal screening
Published: December 11, 2024
Arginase 1 deficiency: a treatable form of spastic paraplegia.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 29, 2024
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.
Journal: International journal of neonatal screening
Published: November 09, 2024
Last Updated: 09/26/2026