Agata Fiumara

Summary

Country: Italy

Publications

  1. pmc Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)
    Agata Fiumara
    Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy
    JIMD Rep 27:93-9. 2016
  2. pmc Epilepsy in patients with Angelman syndrome
    Agata Fiumara
    Pediatric Neurology, Regional Referral Centre for Inborn Errors Metabolism, University of Catania, Italy
    Ital J Pediatr 36:31. 2010
  3. doi request reprint CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder
    Rita Barone
    Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania
    Autism Res 9:423-8. 2016
  4. doi request reprint DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
    Rita Barone
    Pediatric Neurology, Department of Pediatrics, University of Catania, Catania, Italy
    Ann Neurol 72:550-8. 2012
  5. doi request reprint Congenital disorders of glycosylation with emphasis on cerebellar involvement
    Rita Barone
    Department of Pediatrics, Pediatric Neurology, University of Catania, Catania, Italy
    Semin Neurol 34:357-66. 2014
  6. doi request reprint Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?
    Filippo Greco
    Department of Pediatrics, University of Catania, Via S Sofia 78, 95123, Catania, Italy
    Childs Nerv Syst 24:1479-81. 2008
  7. doi request reprint Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia
    Rita Barone
    Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy
    Am J Med Genet A 146:2103-8. 2008
  8. pmc Imaging findings of mucopolysaccharidoses: a pictorial review
    Stefano Palmucci
    Radiodiagnostic and Oncological Radiotherapy Unit, University Hospital Policlinico Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
    Insights Imaging 4:443-59. 2013
  9. pmc Quantitative analysis of upright standing in adults with late-onset Pompe disease
    Maria Stella Valle
    Gait and Posture Analysis Laboratory, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
    Sci Rep 6:37040. 2016

Collaborators

  • Jaak Jaeken
  • Renata Rizzo
  • Filippo Greco
  • Pasquale Striano
  • Dirk J Lefeber
  • Enrico Bertini
  • Daniela Concolino
  • Eugenio Mercuri
  • Rita Barone
  • Giovanni Sorge
  • Domenico Garozzo
  • Maria Stella Valle
  • Stefano Palmucci
  • Mario Zappia
  • Luisa Sturiale
  • Dora Castiglione
  • Rosaria O Bua
  • Antonino Casabona
  • Angelo Palmigiano
  • Matteo Cioni
  • Luisella Sturiale
  • Maria Letizia Lanza
  • Domenico Di Bella
  • Giuseppe Belfiore
  • Giovanni Carlo Ettorre
  • Giancarlo Attinà
  • Pietro Milone
  • Pietro Valerio Foti
  • Giuseppina Cappello
  • Massimo Carella
  • Chiara Aiello
  • Filippo Santorelli
  • Eva Morava
  • Wendy Vleugels
  • Chiara Passarelli
  • Gert Matthijs
  • Sonia Messina
  • Francois Foulquier
  • Moniek Riemersma
  • Valerie Race
  • Ron A Wevers
  • Antonella Ignoto
  • Vito Sofia

Detail Information

Publications9

  1. pmc Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)
    Agata Fiumara
    Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy
    JIMD Rep 27:93-9. 2016
    ..We propose a diagnostic flowchart for the early diagnosis of CDG in patients presenting with EOEE and suggest to perform serum transferrin IEF (or capillary zone electrophoresis) as a first-line screening in early-onset epilepsy. ..
  2. pmc Epilepsy in patients with Angelman syndrome
    Agata Fiumara
    Pediatric Neurology, Regional Referral Centre for Inborn Errors Metabolism, University of Catania, Italy
    Ital J Pediatr 36:31. 2010
    ..Some drugs seems to act better than others, Valproate, ethosuximide and clonazepam giving the best results...
  3. doi request reprint CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder
    Rita Barone
    Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania
    Autism Res 9:423-8. 2016
    ....
  4. doi request reprint DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
    Rita Barone
    Pediatric Neurology, Department of Pediatrics, University of Catania, Catania, Italy
    Ann Neurol 72:550-8. 2012
    ..There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry...
  5. doi request reprint Congenital disorders of glycosylation with emphasis on cerebellar involvement
    Rita Barone
    Department of Pediatrics, Pediatric Neurology, University of Catania, Catania, Italy
    Semin Neurol 34:357-66. 2014
    ..It has also been reported in some patients with ALG1-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, ALG8-CDG, PIGA-CDG, DPM1-CDG, DPM2-CDG, B4GALT1-CDG, SLC35A2-CDG, COG1-CDG, COG5-CDG, COG7-CDG, and COG8-CDG. ..
  6. doi request reprint Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?
    Filippo Greco
    Department of Pediatrics, University of Catania, Via S Sofia 78, 95123, Catania, Italy
    Childs Nerv Syst 24:1479-81. 2008
    ..A subgaleal hematoma (SGH) occurred in a young patient with Sturge-Weber syndrome (SWS) who was treated with aspirin after a mild head trauma...
  7. doi request reprint Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia
    Rita Barone
    Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy
    Am J Med Genet A 146:2103-8. 2008
    ..Glycoproteomic analysis may reveal differences in CDG-Ia patients with different disease severity and might endorse clinical characterization of CDG-Ia patients...
  8. pmc Imaging findings of mucopolysaccharidoses: a pictorial review
    Stefano Palmucci
    Radiodiagnostic and Oncological Radiotherapy Unit, University Hospital Policlinico Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
    Insights Imaging 4:443-59. 2013
    ..The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible through enzymatic assays of the defective enzyme in cultured fibroblasts or leukocytes...
  9. pmc Quantitative analysis of upright standing in adults with late-onset Pompe disease
    Maria Stella Valle
    Gait and Posture Analysis Laboratory, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
    Sci Rep 6:37040. 2016
    ..These results provide objective elements to monitor deficiencies of upright standing in Pompe disease, emphasizing the specific contributions of sway direction and sensory deficits...