Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.
Parazzini
Cecilia
C
Department of Radiology, Azienda Ospedaliera Istituti Clinici di Perfezionamento, Milano, Italy.
Arena
Saverio
S
Marchetti
Lucrezia
L
Menni
Francesca
F
Filocamo
Mirella
M
Verheijen
Frans W
FW
Mancini
Grazia M S
GM
Triulzi
Fabio
F
Parini
Rossella
R
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
D019158:N-Acetylneuraminic Acid