title: Long-term survival in a patient with muscle-eye-brain disease.
authors.affiliation: General Pediatrics Operative Unit, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Via Plebiscito n. 628, 95100, Catania, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.affiliation: General Pediatrics Operative Unit, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Via Plebiscito n. 628, 95100, Catania, Italy.
authors.forename: Leandra
authors.initials: L
authors.lastname: Giunta
authors.affiliation: Pediatric Nephrology Operative Unit, La Sapienza University Hospital, University of Rome, Rome, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Lubrano
authors.affiliation: Rheumatology Operative Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy.
authors.forename: Rosario
authors.initials: R
authors.lastname: Foti
authors.affiliation: General Pediatrics Operative Unit, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Via Plebiscito n. 628, 95100, Catania, Italy. giovitaliti@yahoo.it.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Vitaliti
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D012720:Severity of Illness Index; D058494:Walker-Warburg Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
keywords: Childhood; Congenital muscular dystrophy (CMD); Long-term survival; MRI; Muscle–eye–brain