Search

Your search keyword '"Sibilio, Michelina"' showing total 2 results
Start Over Author "Sibilio, Michelina" Language undetermined
2 results on '"Sibilio, Michelina"'

1. Additional file 1 of Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Author

Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew, Cooper, David, Gasperini, Serena, Rigoldi, Miriam, Parini, Rossella, Deodato, Federica, Taurisano, Roberta, Sibilio, Michelina, Parenti, Giancarlo, Guerrini, Renzo, and Morrone, Amelia

Abstract

Figure S3. Sequence analysis of the aberrant mRNA transcript generated as a consequence of the c.899–167 A > G lesion identified in the GALNS gene of Pt1. A. GALNS mRNA sequence and schematic representation of the wild-type splicing event. B. Aberrant mRNA splicing resulting from the intronic c.899–167 A > G transition. (PPT 425 kb)

Published
2018
Full Text
View/download PDF

2. Brain damage in glycogen storage disease type I

Author

Generoso Andria, Roberto Della Casa, Francesco Di Salle, Daniela Melis, Raffaele Elefante, Anna Perretti, Giancarlo Parenti, Luigi Sequino, Lucio Santoro, Alfonso Romano, Roberto Paludetto, G. Mansi, Michelina Sibilio, Melis, Daniela, Parenti, Giancarlo, DELLA CASA, Roberto, Sibilio, Michelina, Romano, Alfonso, DI SALLE, Francesco, Elefante, Raffaele, Mansi, Giuseppina, Santoro, Lucio, Perretti, ANNA CARMELA AGNESE, Paludetto, Roberto, Sequino, Luigi, and Andria, Generoso

Subjects
Adult, Male, medicine.medical_specialty, complications, Adolescent, Brain damage, Glycogen Storage Disease Type I, Hypoglycemia, Electroencephalography, Somatosensory system, medicine, Humans, Preschool, Child, Evoked Potentials, Neurologic Examination, Brain Diseases, Glycogen storage disease type I, medicine.diagnostic_test, Brain Diseases, Metabolic, business.industry, Brain morphometry, Infant, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Surgery, Italy, Adolescent, Adult, Brain Diseases, Metabolic, epidemiology/etiology/pathology, Case-Control Studies, Child, Child, Preschool, Electroencephalography, Evoked Potentials, Female, Glycogen Storage Disease Type I, complications, Humans, Hypoglycemia, complications, Infant, Italy, epidemiology, Magnetic Resonance Imaging, Male, Neurologic Examination, Somatosensory evoked potential, epidemiology/etiology/pathology, Case-Control Studies, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, epidemiology, Female, medicine.symptom, business
Abstract

OBJECTIVE: To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI). STUDY DESIGN: Nineteen patients (13 females and 6 males, aged 0.9-22.6 years) and 38 sex- and age-matched controls entered the study. Neurological examinations, psychometric tests (IQ, tests of performance and verbal abilities), standard electroencephalogram (EEG), somatosensory (SEPs), visual (VEPs), and brain-stem auditory evoked potentials (BAEPs), and brain magnetic resonance imaging (MRI) were performed. RESULTS: The results of tests of performance ability were lower in patients than in controls (P

Published
2004
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results