Roberta Damiano
Florence, 50139, Italy
Last Updated: 09/26/2026
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Found 10 publications
The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.
Journal: International journal of neonatal screening
Published: August 04, 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
Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 18, 2024
Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.
Journal: Clinical chemistry and laboratory medicine
Published: October 22, 2024
Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.
Journal: Antioxidants (Basel, Switzerland)
Published: February 25, 2022
Lactate Rewires Lipid Metabolism and Sustains a Metabolic-Epigenetic Axis in Prostate Cancer.
Journal: Cancer research
Published: March 22, 2021
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
Journal: Clinical chemistry and laboratory medicine
Published: March 13, 2021
Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis.
Journal: Data in brief
Published: November 07, 2018
LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 27, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026