Ferdinando Barretta

Naples, 80131, Italy

Last Updated: 09/26/2026

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Found 16 publications

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Journal: Genes

Published: July 21, 2025

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Journal: Orphanet journal of rare diseases

Published: April 20, 2025

Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Journal: Molecular genetics and metabolism

Published: September 10, 2024

Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia.

Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia.

Journal: Reproductive biology

Published: June 03, 2024

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.

Journal: Molecular genetics and metabolism reports

Published: May 27, 2024

Desmosomes in heart and skin: friends or foes?

Desmosomes in heart and skin: friends or foes?

Journal: Journal of translational medicine

Published: March 22, 2024

Clinical presentation and genetic characterization of early-onset atrial fibrillation in patients affected by long QT syndrome: A single-center experience.

Clinical presentation and genetic characterization of early-onset atrial fibrillation in patients affected by long QT syndrome: A single-center experience.

Journal: Journal of cardiovascular electrophysiology

Published: February 11, 2024

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Journal: Genes

Published: March 21, 2023

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Journal: Genes

Published: March 20, 2023

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Journal: Biomolecules

Published: July 27, 2022

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.

Journal: Frontiers in pediatrics

Published: March 14, 2022

Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination.

Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination.

Journal: Frontiers in immunology

Published: December 29, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026