Publications by authors named "Concetta Meli"

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Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.
Manuela Lo Bianco, Roberta Leonardi, Alessia Migliore, Evelina Moliteo, Monica Sciacca, Concetta Meli

Nutrients· September 2025

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Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.
Guido Leone, Concetta Meli, Raffaele Falsaperla, Federica Gullo, Laura Licciardello

Nutrients· February 2025

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Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Maria Chiara Consentino, Luisa La Spina, Concetta Meli, Marianna Messina, Manuela Lo Bianco

Nutrients· January 2025

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Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.
MariaAnna Messina, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli

Biomedicines· December 2023

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Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Concetta Meli

Biomedicines· July 2023

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Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample.
Martina Randazzo, Adriana Prato, MariaAnna Messina, Concetta Meli, Antonino Casabona

Children (Basel)· February 2023

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Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.
Maria Grazia Pappalardo, Alessandra Di Nora, Andrea Giugno, Concetta Meli, Annamaria Sapuppo

Glob Med Genet· September 2022

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Concetta Meli, Amelia Morrone

Int J Neonatal Screen· August 2022

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New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.
MariaAnna Messina, Federica Raudino, Riccardo Iacobacci, Concetta Meli, Agata Fiumara

Clin Chim Acta· September 2021

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PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Catia Cavicchi, Abderrahim Oussalah, Silvia Falliano, Lorenzo Ferri, Alessia Gozzini, Concetta Meli, Amelia Morrone

Clin Epigenetics· July 2021

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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.
MariaAnna Messina, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli

Int J Neonatal Screen· July 2020

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Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.
MariaAnna Messina, Concetta Meli, Federica Raudino, Annarita Pittalá, Alessia Arena

Int J Neonatal Screen· June 2018

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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Stefanie Keil, Karen Anjema, Francjan J van Spronsen, Nilo Lambruschini, Alberto Burlina, Amelie S Lotz-Havla, Concetta A P Meli

Pediatrics· June 2013

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Clinical manifestations and management of four children with Pearson syndrome.
Manuela Tumino, Concetta Meli, Piero Farruggia, Milena La Spina, Maura Faraci

Am J Med Genet A· December 2011

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First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.
Johannes Häberle, Maria Antonia Vilaseca, Concetta Meli, Miriam Rigoldi, Fernando Jara

Eur J Obstet Gynecol Reprod Biol· April 2010

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Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Martijn Kranendijk, Eduard A Struys, K Michael Gibson, Wjera V Wickenhagen, Jose E Abdenur, Concetta Meli

Hum Mutat· March 2010

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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.
Francesco Cali, Giuseppa Ruggeri, Mirella Vinci, Concetta Meli, Carla Carducci

Exp Mol Med· February 2010

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Pharmacokinetics of sapropterin in patients with phenylketonuria.
François Feillet, Lorne Clarke, Concetta Meli, Mark Lipson, Andrew A Morris

Clin Pharmacokinet· March 2009

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Hyperphenylalaninemia and birth weight.
Sebastiano Bianca, Concetta Meli, Barbara Barrano, Florindo Mollica

Ann Genet· May 2003

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Autism and phenylketonuria.
Sabrina Baieli, Lorenzo Pavone, Concetta Meli, Agata Fiumara, Mary Coleman

J Autism Dev Disord· April 2003

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Dietary control of phenylketonuria.
Concetta Meli, Sebastiano Bianca

Lancet· January 2003

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