title: Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.
authors.affiliation: Department of Radiology, Azienda Ospedaliera Istituti Clinici di Perfezionamento, Milano, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Parazzini
authors.forename: Saverio
authors.initials: S
authors.lastname: Arena
authors.forename: Lucrezia
authors.initials: L
authors.lastname: Marchetti
authors.forename: Francesca
authors.initials: F
authors.lastname: Menni
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.forename: Frans W
authors.initials: FW
authors.lastname: Verheijen
authors.forename: Grazia M S
authors.initials: GM
authors.lastname: Mancini
authors.forename: Fabio
authors.initials: F
authors.lastname: Triulzi
authors.forename: Rossella
authors.initials: R
authors.lastname: Parini
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D004453:Echoencephalography; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019158:N-Acetylneuraminic Acid / Q000652:urine; D029461:Sialic Acid Storage Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D019158:N-Acetylneuraminic Acid