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silvia funghini

None · aou meyer

https://researchid.co/s.funghini
@meyer.it
46Scopus Publications

Recent Scopus Publications

  1. Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
    Molecular Genetics and Metabolism, 2026
  2. Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program
    International Journal of Neonatal Screening, 2025
  3. Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy
    Med, 2025
  4. Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
    International Journal of Neonatal Screening, 2022
  5. Lysosomals
    Physician S Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases Second Edition, 2022

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