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54. Sanfilippo syndrome type C: Novel mutations in the HGSNAT gene

✍ 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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Sanfilippo syndrome type C: mutation spe
✍ Matthew Feldhammer; StΓ©phanie Durand; Lenka MrΓ‘zovΓ‘; RenΓ©e-Myriam Boucher; Rache πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 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

Functional analysis of the HGSNAT gene i
✍ Anthony O. Fedele; John J. Hopwood πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 343 KB

Mucopolysaccharidosis (MPS) IIIC is an autosomal recessive lysosomal storage disorder caused by a deficiency in heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT). The characteristic feature is the deterioration of the central nervous system, but other symptoms may include coarse f