Zobrazeno 1 - 10
of 300
pro vyhledávání: '"Cazzorla, A."'
Autor:
Spaccapaniccia, Elisa1 (AUTHOR) franca.cattani@dompe.com, Cazzorla, Tiziano2 (AUTHOR), Rossetti, Daniela1 (AUTHOR) mariano.maffei@dompe.com, De Simone, Lucio1 (AUTHOR), Antonangeli, Maria Irene1 (AUTHOR), Antonosante, Andrea1 (AUTHOR), Galli, Francesca1 (AUTHOR), Cattani, Franca1 (AUTHOR), Maffei, Mariano1 (AUTHOR), Martin, Franck1 (AUTHOR) franck.martin@dompe.com
Publikováno v:
International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 24, p13425. 17p.
Autor:
Capolupo, Paolo, Natalicchio, Angelo, Ardito, Lorenzo, Messeni Petruzzelli, Antonio, Cazzorla, Manuela
Publikováno v:
In Finance Research Letters January 2025 71
Autor:
Alberto B. Burlina, Alessandro P. Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R. Baumgartner, Vincenza Gragnaniello
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 56-62 (2024)
Abstract Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor of methylmalonyl‐CoA mutase. It presents with episodes of coma,
Externí odkaz:
https://doaj.org/article/55b81661c71f47da8d6c76bd5a4b1995
Autor:
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox balance. Oxidative stress
Externí odkaz:
https://doaj.org/article/c58590f104974169867af1cbdb4fa339
Autor:
Scala, Iris, Brodosi, Lucia, Gueraldi, Daniela, Manti, Filippo, Rovelli, Valentina, Zuvadelli, Juri, Agnelli, Giulio, Cazzorla, Chiara, Nardecchia, Francesca, Giammanco, Antonina, Biasucci, Giacomo
Publikováno v:
In Molecular Genetics and Metabolism May 2024 142(1)
Autor:
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepa
Externí odkaz:
https://doaj.org/article/9de6a35a1c3e47259c17ab8c1cb6dde5
Autor:
Parolisi, Sara, Montanari, Chiara, Borghi, Elisa, Cazzorla, Chiara, Zuvadelli, Juri, Tosi, Martina, Barone, Rita, Bensi, Giulia, Bonfanti, Cristina, Dionisi Vici, Carlo, Biasucci, Giacomo, Burlina, Alberto, Carbone, Maria T., Verduci, Elvira
Publikováno v:
In Pharmacological Research November 2023 197
Autor:
Sara Parolisi, Chiara Montanari, Elisa Borghi, Chiara Cazzorla, Juri Zuvadelli, Martina Tosi, Rita Barone, Giulia Bensi, Cristina Bonfanti, Carlo Dionisi Vici, Giacomo Biasucci, Alberto Burlina, Maria T. Carbone, Elvira Verduci
Publikováno v:
Pharmacological Research, Vol 197, Iss , Pp 106952- (2023)
Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA). According to recent research, a
Externí odkaz:
https://doaj.org/article/01dbc13c0dcd4054885179d2cd147f64
Autor:
Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P. Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction since birth has led to normal cogni
Externí odkaz:
https://doaj.org/article/fbe95c55a4a245f3ade8b160e5a9f85a
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