Zobrazeno 1 - 10
of 187
pro vyhledávání: '"P. Teofoli"'
Autor:
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 53 (2024)
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not inc
Externí odkaz:
https://doaj.org/article/b60cffae35ee45fc8e6900dc66977123
Autor:
Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 67, Iss 1, Pp 143-149 (2023)
Abstract Congenital hypothyroidism (CH) may be caused by biallelic variants in the TSHR gene. CH due to thyroid dysgenesis has also been linked to pathogenic variants of the nucleotide kinase 2, homeobox 5 (NKX2-5) gene, which can also cause sudden c
Externí odkaz:
https://doaj.org/article/a12e4d2e2aec428cbce0bd517840a4fc
Akademický článek
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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy betwe
Externí odkaz:
https://doaj.org/article/693ce51ab3634e2681369cd0d228d859
Autor:
Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Erika Rigotti, Francesca Pellegrini, Grazia Molinaro, Fiorenzo Lupi, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Giorgio Piacentini, Andrea Bordugo
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to desc
Externí odkaz:
https://doaj.org/article/63fdc4a8fd674a3bb3bd5dfb6b3ac3ed
Autor:
A. Maguolo, G. Rodella, A. Dianin, R. Nurti, I. Monge, E. Rigotti, G. Cantalupo, L. Salviati, S. Tucci, F. Pellegrini, G. Molinaro, F. Lupi, P. Tonin, A. Pasini, N. Campostrini, F. Ion Popa, F. Teofoli, M. Vincenzi, M. Camilot, G. Piacentini, A. Bordugo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100632- (2020)
Introduction: Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified
Externí odkaz:
https://doaj.org/article/d2a3f4cedf0c4c79a6ef4ce17452171d
Publikováno v:
Beyond Rheumatology, Vol 2 (2020)
Psoriasis is a chronic disease, characterized by systemic inflammation with skin, joint and metabolic involvement. The most common tools to evaluate the severity of each disease is respectively the Psoriasis Area Severity Index (PASI) and the Disease
Externí odkaz:
https://doaj.org/article/5456e241c95a4a788b4cecb4a099335b
Autor:
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-6 (2018)
Abstract Background Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later devel
Externí odkaz:
https://doaj.org/article/2376c08fd05c4c77a0dfe1d79c577e52
Autor:
De Angelis, Simona, Medda, Emanuela, Rotondi, Daniela, Masocco, Maria, Minardi, Valentina, Contoli, Benedetta, Possenti, Valentina, Sorbo, Angela, D’Amato, Marilena, Turco, Anna Chiara, Pastorelli, Alberto Augusto, Stacchini, Paolo, Cas, Roberto Da, Bagnasco, Marcello, Bonofiglio, Daniela, Gasperi, Maurizio, Meringolo, Domenico, Mian, Caterina, Moleti, Mariacarla, Vermiglio, Francesco, Puxeddu, Efisio, Taccaliti, Augusto, Tonacchera, Massimo, Ulisse, Salvatore, Dimida, Antonio, Rago, Teresa, Nazzari, Elena, Schiavo, Mara, Bossert, Irene, Sturniolo, Giacomo, Corbetta, Carlo, Cereda, Cristina, Cappelletti, Laura, Camilot, Marta, Teofoli, Francesca, Ciatti, Renzo, Tarsi, Elisabetta, Perrotti, Nicola, Marasco, Onorina, Scozzafava, Giovanna, Righetti, Francesca, Andò, Sebastiano, Catalano, Stefania, Cristofaro, Mariarosaria, Sorrenti, Giovanni, Censi, Simona, Morelli, Silvia, Baldini, Enke, Plutino, Giuseppe, Copparoni, Roberto, Alonzo, Elena, Giacomozzi, Claudia, Silano, Marco, Olivieri, Antonella
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism; February 2024, Vol. 109 Issue: 2 pe495-e507, 13p
Akademický článek
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