Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Giulia, Frisso"'
Autor:
Iolanda Veneruso, Cristina Mennitti, Alessandro Gentile, Gennaro Di Bonito, Jacopo Ulisse, Carmela Scarano, Barbara Lombardo, Daniela Terracciano, Raffaela Pero, Giovanni D'Alicandro, Giulia Frisso, Valeria D'Argenio, Olga Scudiero
Publikováno v:
Heliyon, Vol 10, Iss 23, Pp e40663- (2024)
It has been well established that the human gut microbiota plays a pivotal role in humans' health, since it is involved in nutrients' uptake, vitamins' synthesis, energy harvest, inflammatory modulation, and host immune responses. Moreover, gut micro
Externí odkaz:
https://doaj.org/article/a43ea267b1dc490396ffbddc877852c8
Autor:
Rosamaria Terracciano, Margherita Ruoppolo, Ferdinando Barretta, Lucia Albano, Daniela Crisci, Giovanna Gallo, Fabiana Uomo, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Alessandro Rossi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101116- (2024)
3-methylcrotonyl-CoA carboxylase deficiency (3MCCD) is a hereditary disorder of leucine catabolism caused by pathogenetic variants in the MCCC1 or MCCC2 genes. Typically diagnosed through newborn screening (NBS), 3MCCD is characterized by elevation o
Externí odkaz:
https://doaj.org/article/78498bc4cf7a4ec99858a80334bab2fa
Autor:
Cristina Mennitti, Gabriele Farina, Antonio Imperatore, Giulia De Fonzo, Alessandro Gentile, Evelina La Civita, Gianluigi Carbone, Rosa Redenta De Simone, Maria Rosaria Di Iorio, Nadia Tinto, Giulia Frisso, Valeria D’Argenio, Barbara Lombardo, Daniela Terracciano, Clara Crescioli, Olga Scudiero
Publikováno v:
Biomolecules, Vol 14, Iss 11, p 1418 (2024)
Physical activity highly impacts the neuroendocrine system and hormonal secretion. Numerous variables, both those related to the individual, including genetics, age, sex, biological rhythms, nutritional status, level of training, intake of drugs or s
Externí odkaz:
https://doaj.org/article/0a30bbd058ea4103aafdb98247d45356
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:
Felice Borrelli, Maria Angela Losi, Grazia Canciello, Gaetano Todde, Errico Federico Perillo, Leopoldo Ordine, Giulia Frisso, Giovanni Esposito, Raffaella Lombardi
Publikováno v:
Cardiogenetics, Vol 13, Iss 2, Pp 92-105 (2023)
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and is characterized by left ventricular hypertrophy (LVH), which is unexplained by abnormal loading conditions. HCM is inherited as an autosomal dominant trait an
Externí odkaz:
https://doaj.org/article/0ed62e53988e47c38a11c6230fe7a460
Autor:
Alessandro Rossi, Mariagrazia Turturo, Lucia Albano, Simona Fecarotta, Ferdinando Barretta, Daniela Crisci, Giovanna Gallo, Rosa Perfetto, Fabiana Uomo, Fabiana Vallone, Guglielmo Villani, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Margherita Ruoppolo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
IntroductionShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5)
Externí odkaz:
https://doaj.org/article/55e601516b4c42e0a35649676661ce05
Autor:
Emilia Cirillo, Ciro Esposito, Giuliana Giardino, Gaetano Azan, Simona Fecarotta, Stefania Pittaluga, Lucia Ruggiero, Ferdinando Barretta, Giulia Frisso, Luigi Daniele Notarangelo, Claudio Pignata
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundSevere skeletal muscle damage has been recently reported in patients with SARS-CoV-2 infection and as a rare vaccination complication.Case summaryOn Apr 28, 2021 a 68-year-old man who was previously healthy presented with an extremely sever
Externí odkaz:
https://doaj.org/article/4eb40e7457224dfd963c0bf31acf39e4
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
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:
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