Zobrazeno 1 - 10
of 272
pro vyhledávání: '"Gragnaniello P"'
Autor:
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Po
Externí odkaz:
https://doaj.org/article/ef4620eaa39f4a08bbe3b14b878a0993
Autor:
Francesco Porta, Arianna Maiorana, Vincenza Gragnaniello, Elena Procopio, Serena Gasperini, Roberta Taurisano, Marco Spada, Carlo Dionisi-Vici, Alberto Burlina
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Abstract Background Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum
Externí odkaz:
https://doaj.org/article/c89fc9cb463c45048eeb2baf0393e5a9
Autor:
Elena Tomasuolo, Arianna Bello, Manuela Gragnaniello, Alessandra Resca, Maddalena Bassoli, Erika Benassi
Publikováno v:
Acta Psychologica, Vol 251, Iss , Pp 104632- (2024)
Background and aim: Most children and adolescents with deafness receive one or two cochlear implants (CIs). Despite the CI expanding the potential for auditory rehabilitation in deaf children, the improvements in language and literacy skills of some
Externí odkaz:
https://doaj.org/article/773c2dbdfca24d44b310be54cb75ec23
Autor:
Agata Fiumara, Annamaria Sapuppo, Serena Gasperini, Viola Crescitelli, Michele Sacchini, Elena Procopio, Vincenza Gragnaniello, Alberto Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101126- (2024)
Introduction: Infantile-onset Pompe disease (IOPD) is due to mutations in the GAA gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy, macroglos
Externí odkaz:
https://doaj.org/article/4fd1c9f16efb4679995f2eedb5b44f11
Autor:
Emilia Petillo, Valeria Veneruso, Gianluca Gragnaniello, Lorenzo Brochier, Enrico Frigerio, Giuseppe Perale, Filippo Rossi, Andrea Cardia, Alessandro Orro, Pietro Veglianese
Publikováno v:
Materials Today Bio, Vol 27, Iss , Pp 101140- (2024)
Externí odkaz:
https://doaj.org/article/95a85ef4ce564c3a8924992ab43cb9b8
Autor:
Emilia Petillo, Valeria Veneruso, Gianluca Gragnaniello, Lorenzo Brochier, Enrico Frigerio, Giuseppe Perale, Filippo Rossi, Andrea Cardia, Alessandro Orro, Pietro Veglianese
Publikováno v:
Materials Today Bio, Vol 27, Iss , Pp 101117- (2024)
Spinal cord injury (SCI) is a devastating condition that can cause significant motor and sensory impairment. Microglia, the central nervous system's immune sentinels, are known to be promising therapeutic targets in both SCI and neurodegenerative dis
Externí odkaz:
https://doaj.org/article/6438434accd944cd82093145bcea7e27
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
The ever higher quality and wide diffusion of fake images have spawn a quest for reliable forensic tools. Many GAN image detectors have been proposed, recently. In real world scenarios, however, most of them show limited robustness and generalization
Externí odkaz:
http://arxiv.org/abs/2112.12606
Publikováno v:
Formare, Vol 24, Iss 2 (2024)
The internship, provided as part of the master’s degree course in Primary Education Sciences (SFP), is an opportunity for future teachers to live, through the tutor guidance and support, the transition from being a student to being a teaching. Desp
Externí odkaz:
https://doaj.org/article/53f1751321a742738f560fd59218a456
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