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Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features
Cecilia Parazzini, Saverio Arena, Lucrezia Marchetti, Francesca Menni, Mirella Filocamo, Frans W. Verheijen, Grazia M.S. Mancini, Fabio Triulzi and Rossella Parini
American Journal of Neuroradiology March 2003, 24 (3) 398-400;
Cecilia Parazzini
Saverio Arena
Lucrezia Marchetti
Francesca Menni
Mirella Filocamo
Frans W. Verheijen
Grazia M.S. Mancini
Fabio Triulzi

References
- ↵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
- ↵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
- ↵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
- ↵Lemyre F, Russo P, Melancon SB. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet 1999;82:385–391
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- ↵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
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Cecilia Parazzini, Saverio Arena, Lucrezia Marchetti, Francesca Menni, Mirella Filocamo, Frans W. Verheijen, Grazia M.S. Mancini, Fabio Triulzi, Rossella Parini
Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features
American Journal of Neuroradiology Mar 2003, 24 (3) 398-400;
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Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features
Cecilia Parazzini, Saverio Arena, Lucrezia Marchetti, Francesca Menni, Mirella Filocamo, Frans W. Verheijen, Grazia M.S. Mancini, Fabio Triulzi, Rossella Parini
American Journal of Neuroradiology Mar 2003, 24 (3) 398-400;
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