Sanfilippo syndrome type C: mutation spe
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Matthew Feldhammer; Stéphanie Durand; Lenka Mrázová; Renée-Myriam Boucher; Rache
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Article
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2009
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John Wiley and Sons
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English
⚖ 231 KB
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78), which catalyzes transmembrane acety