Sabrina Malvagia
Florence, 50139, Italy
Last Updated: 09/26/2026
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Found 35 publications
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.
Journal: Molecular genetics and metabolism
Published: February 20, 2026
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.
Journal: International journal of neonatal screening
Published: June 27, 2025
Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.
Journal: International journal of neonatal screening
Published: March 11, 2025
Biomarkers for gene therapy clinical trials of lysosomal storage disorders.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: January 12, 2024
Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany.
Journal: The journal of allergy and clinical immunology. In practice
Published: September 24, 2023
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Journal: International journal of neonatal screening
Published: June 13, 2022
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Journal: Clinical chemistry and laboratory medicine
Published: March 16, 2021
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
Journal: Clinical chemistry and laboratory medicine
Published: March 13, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Journal: Clinical epigenetics
Published: February 22, 2021
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Journal: Molecular genetics and metabolism reports
Published: October 15, 2020
Development of Strategies to Decrease False Positive Results in Newborn Screening.
Journal: International journal of neonatal screening
Published: September 28, 2020
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).
Journal: Clinical chemistry and laboratory medicine
Published: May 04, 2020
Last Updated: 09/26/2026