Hasil Pencarian - Concetta Meli

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  1. 1
    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... oleh MariaAnna Messina, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli, Federica Raudino

    Diterbitkan 2020-07-01
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  2. 2
    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 oleh Martina Randazzo, Adriana Prato, MariaAnna Messina, Concetta Meli, Antonino Casabona, Renata Rizzo, Rita Barone

    Diterbitkan 2023-02-01
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  3. 3
    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 oleh Maria Grazia Pappalardo, Alessandra Di Nora, Andrea Giugno, Concetta Meli, Annamaria Sapuppo, Piero Pavone, Agata Fiumara

    Diterbitkan 2022-09-01
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  4. 4
    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 oleh MariaAnna Messina, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri

    Diterbitkan 2023-12-01
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  5. 5
    Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

    Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily oleh MariaAnna Messina, Concetta Meli, Federica Raudino, Annarita Pittalá, Alessia Arena, Rita Barone, Fortunata Giuffrida, Riccardo Iacobacci, Vera Muccilli, Giovanni Sorge, Agata Fiumara

    Diterbitkan 2018-04-01
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  6. 6
    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 oleh Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro

    Diterbitkan 2023-07-01
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  7. 7
    Hyperprolinemia Type IA

    Hyperprolinemia Type IA oleh Piero Pavone MD, Andrea D. Praticò MD, Giovanni Sorge MD, Concetta Meli MD, Martino Ruggieri MD, PhD, BA, Renata Rizzo MD, Agata Fiumara MD

    Diterbitkan 2017-05-01
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  8. 8
    A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses

    A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses oleh Rita Barone, Rita Barone, Salvatore Alaimo, Marianna Messina, Alfredo Pulvirenti, Jean Bastin, Jean Bastin, MIMIC-Autism Group, Alfredo Ferro, Richard E. Frye, Richard E. Frye, Renata Rizzo, Agata Fiumara, Concetta Meli, Mariangela Gulisano, Federica Maugeri, Adriana Prato, Giovanna Russo, Giovanni Tabbì

    Diterbitkan 2018-12-01
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  9. 9
    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 oleh Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

    Diterbitkan 2022-08-01
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