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15 result(s) for 'author#Federica Deodato' within BMC

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  3. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson…
    Citation: Orphanet Journal of Rare Diseases 2021 16:246
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:328

  4. Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liv...

    Authors: Angela Galeotti, Sara De Rosa, Roberto Uomo, Carlo Dionisi-Vici, Federica Deodato, Roberta Taurisano, Giorgia Olivieri and Paola Festa
    Citation: Orphanet Journal of Rare Diseases 2020 15:329
    Content type: Research Published on:

  5. Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic ...

    Authors: Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta and Stefano Sotgiu
    Citation: BMC Medical Genetics 2019 20:77
    Content type: Case report Published on:

  6. Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a...

    Authors: Daniela Concolino, Federica Deodato and Rossella Parini
    Citation: Italian Journal of Pediatrics 2018 44(Suppl 2):120
    Content type: Review Published on:

    This article is part of a Supplement: Volume 44 Supplement 2

  7. Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a c...

    Authors: Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada…
    Citation: Orphanet Journal of Rare Diseases 2018 13:32
    Content type: Research Published on:

  8. Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (G...

    Authors: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini and Amelia Morrone
    Citation: BMC Medical Genetics 2018 19:183
    Content type: Research article Published on:

  9. High dietary glycaemic index (GI) and load (GL) have been associated with increased risk of various cardiometabolic conditions. Among the molecular potential mechanisms underlying this relationship, DNA methyl...

    Authors: Fabrizia Noro, Federica Santonastaso, Annalisa Marotta, Marialaura Bonaccio, Sabatino Orlandi, Alfonsina Tirozzi, Simona Costanzo, Amalia De Curtis, Francesco Gianfagna, Augusto Di Castelnuovo, Furio Brighenti, Chiara Cerletti, Maria Benedetta Donati, Giovanni de Gaetano, Licia Iacoviello, Alessandro Gialluisi…
    Citation: Clinical Epigenetics 2022 14:189
    Content type: Research Published on:

  10. To evaluate the impact of radiation dose on overall survival (OS) in patients treated with adjuvant chemoradiation (CRT) for pancreatic ductal adenocarcinoma (PDAC).

    Authors: Alessio G. Morganti, Francesco Cellini, Milly Buwenge, Alessandra Arcelli, Sergio Alfieri, Felipe A. Calvo, Riccardo Casadei, Savino Cilla, Francesco Deodato, Giancarmine Di Gioia, Mariacristina Di Marco, Lorenzo Fuccio, Federica Bertini, Alessandra Guido, Joseph M. Herman, Gabriella Macchia…
    Citation: BMC Cancer 2019 19:569
    Content type: Research article Published on:

  11. 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 ...

    Authors: 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 and Roberto Della Casa
    Citation: Italian Journal of Pediatrics 2022 48:41
    Content type: Review Published on:

  12. Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months.

    Authors: Simona Fecarotta, Alfonso Romano, Roberto Della Casa, Ennio Del Giudice, Diana Bruschini, Giuseppina Mansi, Bruno Bembi, Andrea Dardis, Agata Fiumara, Maja Di Rocco, Graziella Uziel, Anna Ardissone, Dario Roccatello, Mirella Alpa, Enrico Bertini, Adele D’Amico…
    Citation: Orphanet Journal of Rare Diseases 2015 10:22
    Content type: Research Published on:

  13. Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS...

    Authors: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2021 16:24
    Content type: Research Published on:

  14. Niemann–Pick disease type C (NPC) is a rare, progressive, neurodegenerative disease associated with neurovisceral manifestations resulting from lysosomal dysfunction and aberrant lipid accumulation. A multicen...

    Authors: Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson…
    Citation: Orphanet Journal of Rare Diseases 2020 15:328
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:246

  15. Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...

    Authors: Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli and Maurizio Scarpa
    Citation: Orphanet Journal of Rare Diseases 2017 12:112
    Content type: Review Published on: