Concetta P. Meli

Catania, 95123, Italy

Last Updated: 09/26/2026

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Found 15 publications

Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.

Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.

Journal: Nutrients
Published: July 22, 2025

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Journal: Nutrients
Published: December 16, 2024

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Journal: Nutrients
Published: December 10, 2024

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.

Journal: Biomedicines
Published: October 08, 2023

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.

Journal: Biomedicines
Published: June 07, 2023

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample.

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample.

Journal: Children (Basel, Switzerland)
Published: December 31, 2022

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.

Journal: Global medical genetics
Published: September 22, 2022

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Journal: European review for medical and pharmacological sciences
Published: August 02, 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

New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.

New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: May 10, 2021

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.

Journal: Clinical epigenetics
Published: February 22, 2021

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

Journal: International journal of neonatal screening
Published: June 14, 2020
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Last Updated: 09/26/2026