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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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Sanfilippo syndrome: a mini-review

M J Valstar1, G J G Ruijter, O P van Diggelen

  • 1Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Journal of Inherited Metabolic Disease
|April 9, 2008
PubMed
Summary

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a genetic disorder impacting heparan sulfate degradation. Diagnosis involves urine tests and enzyme assays, with no current cure but promising future therapies.

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