Francesca Teofoli

Verona, 37126, Italy

Last Updated: 09/26/2026

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Found 18 publications

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.

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 congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.

Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.

Journal: Journal of endocrinological investigation

Published: April 07, 2025

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

Journal: International journal of neonatal screening

Published: June 12, 2024

Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).

Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).

Journal: The Journal of clinical endocrinology and metabolism

Published: June 13, 2023

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Journal: Archives of endocrinology and metabolism

Published: December 05, 2022

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Journal: International journal of neonatal screening

Published: June 13, 2022

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.

Journal: Genes

Published: December 21, 2021

Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test.

Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test.

Journal: Hormone research in paediatrics

Published: November 10, 2021

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Journal: Frontiers in pediatrics

Published: January 30, 2021

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Journal: Molecular genetics and metabolism reports

Published: June 30, 2020

Multiple acyl-COA dehydrogenase deficiency in elderly carriers.

Multiple acyl-COA dehydrogenase deficiency in elderly carriers.

Journal: Journal of neurology

Published: July 26, 2019

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Journal: Italian journal of pediatrics

Published: September 13, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026