𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Homozygous R152W Mutation is Associated with a Relatively Attenuated Phenotype of Mucopolysaccharidosis Type VI

✍ Scribed by Agnieszka Jurecka; Loreta Cimbalistiene; Nina Gusina; Agnieszka Róźdźyńska-Swiątkowska; Anna Tylki-Szymańska


Book ID
116989572
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
59 KB
Volume
105
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


The Mutation p.Ser298Pro in the sulphami
✍ Ann Meyer; Kai Kossow; Andreas Gal; Cordula Steglich; Chris Mühlhausen; Kurt Ull 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB

## Communicated by Elizabeth F. Neufeld Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene and the resulting defective lysosomal degradation of the glycosaminoglycan heparan sulfate. The onset and progressio