Publications by authors named "Simonetta Simonetti"

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Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Simonetta Simonetti

Am J Med Genet A· December 2025

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Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.
Maria Lucia Tommolini, Maria Concetta Cufaro, Silvia Valentinuzzi, Ilaria Cicalini, Mirco Zucchelli, Simonetta Simonetti

Metabolites· May 2025

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Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.
Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Simonetta Simonetti

Int J Neonatal Screen· April 2025

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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
Stefania Martino, Pietro D'Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Simonetta Simonetti

Int J Mol Sci· September 2024

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First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.
Anna Diana, Angela Maria Polizzi, Annunziata De Luisi, Maria Giuseppina Pantaleo, Giuseppina Leonetti, Simonetta Simonetti

J Cyst Fibros· July 2024

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Biomarkers and Biochemical Indicators to Evaluate Bone Metabolism in Preterm Neonates.
Gabriele D'Amato, Vincenzo Brescia, Antonietta Fontana, Maria Pia Natale, Roberto Lovero, Simonetta Simonetti

Biomedicines· June 2024

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Classic Galactosemia: Clinical and Computational Characterization of a Novel Missense Variant (p.A303D) and a Literature Review.
Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Simonetta Simonetti

Int J Mol Sci· December 2023

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Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review.
Albina Tummolo, Rosa Carella, Donatella De Giovanni, Giulia Paterno, Simonetta Simonetti

Int J Mol Sci· November 2023

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Shoulder and Neck Pain in Swimmers: Front Crawl Stroke Analysis, Correlation with the Symptomatology in 61 Masters Athletes and Short Literature Review.
Giuseppe Rinonapoli, Paolo Ceccarini, Francesco Manfreda, Giuseppe Rocco Talesa, Simonetta Simonetti

Healthcare (Basel)· September 2023

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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, Simonetta Simonetti

Int J Neonatal Screen· August 2022

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Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.
Albina Tummolo, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo, Simonetta Simonetti

JIMD Rep· July 2022

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Congenital hypothyroidism after newborn screening program reorganization in the Apulia region.
Simonetta Simonetti, Gabriele D'Amato, Benedetta Esposito, Mariangela Chiarito, Domenico Dentico

Ital J Pediatr· July 2022

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Iodine Absorption in Celiac Children: A Longitudinal Pilot Study.
Maurizio Delvecchio, Francesca Bizzoco, Rosa Lapolla, Antonia Gentile, Cinzia Carrozza, Simonetta Simonetti

Nutrients· March 2021

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Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo

Ital J Pediatr· October 2020

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Potential benefits of taurine in the prevention of skeletal muscle impairment induced by disuse in the hindlimb-unloaded rat.
Sabata Pierno, Antonella Liantonio, Giulia M Camerino, Michela De Bellis, Maria Cannone, Simonetta Simonetti

Amino Acids· July 2012

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