Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Serena, Gasperini"'
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:
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:
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This
Externí odkaz:
https://doaj.org/article/0a5becd85d924dc1b04b318ba6f147bc
Autor:
Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 13, Iss 1, Pp e130114-e130114 (2024)
The authors present an atypical case of an infant with unremarkable familiar, birth, and neonatal history who developed a mild/benign form of transient cholestasis. At admission, second- and third-level assessments were conducted, mitochondrial respi
Externí odkaz:
https://doaj.org/article/1484309c41ce4e41b9d6c6791474feab
Autor:
Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, Gregory M. Enns
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102405- (2024)
Summary: Background: Arginase 1 Deficiency (ARG1-D) is a rare debilitating, progressive, inherited, metabolic disease characterized by marked increases in plasma arginine (pArg) and its metabolites, with increased morbidity, substantial reductions in
Externí odkaz:
https://doaj.org/article/adc9776bffef450085166ec27d071c74
Autor:
Fabiola Guerra, Serena Gasperini, Sonia Bonanomi, Viola Crescitelli, Roberta Pretese, Lorenzo Da Dalt, Giuseppe Danilo Norata, Marta Balzarini, Andrea Biondi, Andrea Baragetti, Francesco Saettini
Publikováno v:
eJHaem, Vol 4, Iss 2, Pp 551-554 (2023)
Externí odkaz:
https://doaj.org/article/9bc592d8400f4e2d9aab82dcf03e6471
Autor:
Margherita Calia, Andrea Mario Luciano Arosio, Viola Crescitelli, Anna Fornari, Roberta Pretese, Serena Gasperini, Giovanna Zuin
Publikováno v:
Therapeutic Advances in Gastroenterology, Vol 16 (2023)
Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn’s-like disease
Externí odkaz:
https://doaj.org/article/6c047a5c7f4e4b3785913e2202f04a1e
Autor:
Maurizio Romagnuolo, Chiara Moltrasio, Serena Gasperini, Angelo Valerio Marzano, Stefano Cambiaghi
Publikováno v:
Children, Vol 10, Iss 12, p 1920 (2023)
Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare
Externí odkaz:
https://doaj.org/article/dd5af13e097145ac863003d2497cfd75
Autor:
Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients with GSD type 0a, VI,
Externí odkaz:
https://doaj.org/article/4fee2a5c2cc64366ab1678b433100e78
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