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
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
✍ Scribed by Anthony Olind Fedele; Mirella Filocamo; Maja Di Rocco; Giovanna Sersale; Torben Lübke; Paola di Natale; Maria Pia Cosma; Andrea Ballabio
- Book ID
- 111700386
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 312 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1059-7794
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