Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Simona Fecarotta"'
Autor:
Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino, Andrea Pession
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-6 (2023)
Abstract Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many inve
Externí odkaz:
https://doaj.org/article/8945f64473ae4b1884493f16f820f68a
Autor:
Irene Sambri, Marco Ferniani, Giulia Campostrini, Marialuisa Testa, Viviana Meraviglia, Mariana E. G. de Araujo, Ladislav Dokládal, Claudia Vilardo, Jlenia Monfregola, Nicolina Zampelli, Francesca Del Vecchio Blanco, Annalaura Torella, Carolina Ruosi, Simona Fecarotta, Giancarlo Parenti, Leopoldo Staiano, Milena Bellin, Lukas A. Huber, Claudio De Virgilio, Francesco Trepiccione, Vincenzo Nigro, Andrea Ballabio
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its paralogue RagC, mediate a
Externí odkaz:
https://doaj.org/article/c0d4353e26904abf8698a54fb8a9d373
Autor:
Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, Maria Alice Donati, Clementina Canessa, Simona Fecarotta, Antonia Pascarella, Giuseppe Spadaro, Daniela Concolino, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Agata Fiumara, Roberto Della Casa
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-14 (2022)
Abstract Background Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1–2 yea
Externí odkaz:
https://doaj.org/article/61af1ccf535f4399a2639a84afdb50e6
Autor:
Alessandro Rossi, Erasmo Miele, Simona Fecarotta, Maria Veiga-da-Cunha, Massimo Martinelli, Carmine Mollica, Maria D’Armiento, Enza Mozzillo, Pietro Strisciuglio, Terry G. J. Derks, Annamaria Staiano, Giancarlo Parenti
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-9 (2021)
Abstract Background Besides major clinical/biochemical features, neutropenia and inflammatory bowel disease (IBD) constitute common complications of Glycogen storage disease type Ib (GSD Ib). However, their management is still challenging. Although p
Externí odkaz:
https://doaj.org/article/80a1e999c8814c649c18bbf4cba69ad9
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:
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, Vol 14, Iss 5, p 980 (2023)
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://doaj.org/article/d706de1901f5467fb6ec3ebfcd2deb8a
Autor:
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity. This very rar
Externí odkaz:
https://doaj.org/article/6bcf5e77cf6c40ca9598c34a2bcd98d2
Autor:
Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro, Antonio Gnoni
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Abstract Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-deh
Externí odkaz:
https://doaj.org/article/865ff49bc16a40598251f6a94f51f6c7
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:
Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 11-16 (2020)
Abstract Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related dis
Externí odkaz:
https://doaj.org/article/73406ef2db4c499baafe195db30a6cd1