- 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. ..
- Epilepsy in patients with Angelman syndromeAgata 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...
- CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorderRita Barone
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania
Autism Res 9:423-8. 2016....
- DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita 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...
- Congenital disorders of glycosylation with emphasis on cerebellar involvementRita 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. ..
- 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...
- Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-IaRita 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...
- Imaging findings of mucopolysaccharidoses: a pictorial reviewStefano 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...
- Quantitative analysis of upright standing in adults with late-onset Pompe diseaseMaria 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...