Daniela Ombrone

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 20 publications

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

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

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

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

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Journal: European journal of neurology

Published: December 04, 2024

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.

Journal: Clinical chemistry and laboratory medicine

Published: March 13, 2021

Development of Strategies to Decrease False Positive Results in Newborn Screening.

Development of Strategies to Decrease False Positive Results in Newborn Screening.

Journal: International journal of neonatal screening

Published: September 28, 2020

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 30, 2015

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

Journal: Clinical chemistry and laboratory medicine

Published: May 08, 2015

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

Journal: Molecular bioSystems

Published: February 18, 2015

Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease.

Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease.

Journal: Journal of neuromuscular diseases

Published: January 01, 2015

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

Journal: Journal of pharmaceutical and biomedical analysis

Published: November 19, 2014

Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry.

Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 28, 2014

Expanded newborn screening by mass spectrometry: New tests, future perspectives.

Expanded newborn screening by mass spectrometry: New tests, future perspectives.

Journal: Mass spectrometry reviews

Published: July 23, 2014

Showing 1-12 of 20

Last Updated: 09/26/2026