Infantile sialic acid storage disease: Serial ultrasound and magnetic resonance imaging features

American Journal of Neuroradiology

Volumn 24, Issue 3, 2003, Pages 398-400

  Parazzini, Cecilia ^a,d   Arena, Saverio ^a   Marchetti, Lucrezia ^a   Menni, Francesca ^a   Filocamo, Mirella ^b   Verheijen, Frans W ^c   Mancini, Grazia ^c   Triulzi, Fabio ^a   Parini, Rossella ^a  

^a FATEBENEFRATELLI HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d V BUZZI CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

SIALIC ACID;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CORPUS CALLOSUM; DIAGNOSTIC IMAGING; ECHOENCEPHALOGRAPHY; FEMALE; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; SIALIC ACID STORAGE DISEASE;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; DIAGNOSIS, DIFFERENTIAL; ECHOENCEPHALOGRAPHY; EXONS; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; N-ACETYLNEURAMINIC ACID; SIALIC ACID STORAGE DISEASE;

EID: 0345700301     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Mancini GM, Beerens CE, Aula PP, Verheijen FW. Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides. J Clin Invest 1991;87:1329-1335
2. Haataja L, Schleutker J, Laine AP, et al. The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. Am J Hum Genet 1994;54:1042-1049
3. Verheijen FW, Verbeek E, Aula N, et al. A new gene, encoding an anion transporter is mutated in sialic acid storage diseases. Nat Genet 1999;23:462-465
4. Lemyre F, Russo P, Melancon SB. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet 1999;82:385-391
5. Berra B, Gornati R, Rapelli S, et al. Infantile sialic acid storage disease: biochemical studies. Am J Med Genet 1995;58:24-31
6. Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG. Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. Pediatr Pathol Lab Med 1995;15:443-453