Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Cristina, Mazzaccara"'
Autor:
Giuseppina Caiazzo, Rosa Redenta De Simone, Emanuele Monda, Ferdinando Barretta, Fabiana Uomo, Cristina Mazzaccara, Matteo Megna, Limongelli Giuseppe, Giulia Frisso
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/b6767aae8edb4f35b19cddd639fd47e0
Autor:
Federica Canfora, Elena Calabria, Giuseppe Pecoraro, Stefania Leuci, Noemi Coppola, Cristina Mazzaccara, Francesca Spirito, Massimo Aria, Luca D'Aniello, Michele Davide Mignogna, Daniela Adamo
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2023)
BackgroundThe relationship between hypertension (HTN) and chronic pain is still a matter of debate, and its prevalence in patients with burning mouth syndrome (BMS) has never been evaluated. This study aimed to assess the prevalence of HTN in women w
Externí odkaz:
https://doaj.org/article/c1aa05231d4744f5a066d40f5e5cadf2
Autor:
Cristina Mazzaccara, Raffaella Lombardi, Bruno Mirra, Ferdinando Barretta, Maria Valeria Esposito, Fabiana Uomo, Martina Caiazza, Emanuele Monda, Maria Angela Losi, Giuseppe Limongelli, Valeria D’Argenio, Giulia Frisso
Publikováno v:
Biomolecules, Vol 12, Iss 10, p 1417 (2022)
The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotyp
Externí odkaz:
https://doaj.org/article/c9575d525a64435f9e038ccee7a98c5b
Autor:
Maria Anna Siano, Claudia Mandato, Lucia Nazzaro, Gennaro Iannicelli, Gian Paolo Ciccarelli, Ferdinando Barretta, Cristina Mazzaccara, Margherita Ruoppolo, Giulia Frisso, Carlo Baldi, Salvatore Tartaglione, Francesco Di Salle, Daniela Melis, Pietro Vajro
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Diagnosis of pediatric steatohepatitis is a challenging issue due to a vast number of established and novel causes. Here, we report a child with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) presenting with an underrated muscle weakness, exercise
Externí odkaz:
https://doaj.org/article/323ee345e50949f294ff867be8308963
Autor:
Barbara Lombardo, Valeria D'Argenio, Emanuele Monda, Andrea Vitale, Martina Caiazza, Lucia Sacchetti, Lucio Pastore, Giuseppe Limongelli, Giulia Frisso, Cristina Mazzaccara
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Syndromic dilated cardiomyopathy (DCM) includes a group of complex disorders with a very heterogeneous genetic etiology, leading to delay in definitive diagnosis. Conversely, an early genetic diagnosis is very important in determi
Externí odkaz:
https://doaj.org/article/233ebff1264e49c7945981e264fa4270
Autor:
Cristina Mazzaccara, Bruno Mirra, Ferdinando Barretta, Barbara Lombardo, Olga Scudiero, Giulia Frisso
Publikováno v:
Cardiogenetics, Vol 10, Iss 1 (2020)
Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue
Externí odkaz:
https://doaj.org/article/c7c4914d104147aea7c7bdbf9d8d7c1b
Autor:
Mariarita Brancaccio, Cristina Mennitti, Arturo Cesaro, Emanuele Monda, Valeria D’Argenio, Giorgio Casaburi, Cristina Mazzaccara, Annaluisa Ranieri, Fabio Fimiani, Ferdinando Barretta, Fabiana Uomo, Martina Caiazza, Michele Lioncino, Giovanni D’Alicandro, Giuseppe Limongelli, Paolo Calabrò, Daniela Terracciano, Barbara Lombardo, Giulia Frisso, Olga Scudiero
Publikováno v:
Diagnostics, Vol 11, Iss 11, p 2144 (2021)
Laboratory medicine, along with genetic investigations in sports medicine, is taking on an increasingly important role in monitoring athletes’ health conditions. Acute or intense exercise can result in metabolic imbalances, muscle injuries or revea
Externí odkaz:
https://doaj.org/article/2f2c1adf3fe84b728c11d7840c560717
Autor:
Guglielmo R.D. Villani, Lucia Albano, Marianna Caterino, Daniela Crisci, Silvia Di Tommaso, Simona Fecarotta, Maria Grazia Fisco, Giulia Frisso, Giovanna Gallo, Cristina Mazzaccara, Emanuela Marchese, Antonio Nolano, Giancarlo Parenti, Rita Pecce, Adriana Redi, Francesco Salvatore, Pietro Strisciuglio, Maria Grazia Turturo, Fabiana Vallone, Margherita Ruoppolo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
In the last years tandem mass spectrometry (MS/MS) has become a leading technology used for neonatal screening purposes. Newborn screening by MS/MS on dried blood spot samples (DBS) has one of its items in methionine levels: the knowledge of this par
Externí odkaz:
https://doaj.org/article/1235c310501b49afbe8c1eba65757f62
Autor:
Fernanda Iafusco, Giovanna Maione, Cristina Mazzaccara, Francesca Di Candia, Enza Mozzillo, Adriana Franzese, Nadia Tinto
Publikováno v:
Diagnostics, Vol 11, Iss 7, p 1164 (2021)
Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspec
Externí odkaz:
https://doaj.org/article/dfdd5e17f05b4e8d864285fa614b3d16
Autor:
Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara, Giulia Frisso
Publikováno v:
Genes; Volume 14; Issue 5; Pages: 980
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bba07e2bfd58e6f5f2bdd4d99e488da