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
β¦ LIBER β¦
54. Sanfilippo syndrome type C: Novel mutations in the HGSNAT gene
β Scribed by Matthew Feldhammer; Stephanie Durand; Lenka Mrazova; Otto P. van Diggelen; Martin Hrebicek; Stanislav Kmoch; Alexey V. Pshezhetsky
- Book ID
- 116988488
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 43 KB
- Volume
- 96
- Category
- Article
- ISSN
- 1096-7192
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