𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Natural history of Polish patients with mucopolysaccharidosis type VI

✍ Scribed by Jurecka, Agnieszka ;Rozdzynska, Agnieszka ;Marucha, Jolanta ;Czartoryska, Barbara ;Wegrzyn, Grzegorz ;Tylki-Szymanska, Anna


Book ID
111489963
Publisher
Walter de Gruyter GmbH
Year
2011
Tongue
English
Weight
876 KB
Volume
6
Category
Article
ISSN
2391-5463

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Natural history of Polish patients with
✍ Jurecka, Agnieszka ;Rozdzynska, Agnieszka ;Marucha, Jolanta ;Czartoryska, Barbar πŸ“‚ Article πŸ“… 2011 πŸ› Walter de Gruyter GmbH 🌐 English βš– 876 KB

The aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. Clinical heterogeneity was observed and two major clinical phenotypes of the disease were distinguished, rapi

Mutational analysis of 105 mucopolysacch
✍ Litsa Karageorgos; Doug A. Brooks; Anthony Pollard; Elizabeth L. Melville; Leann πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 294 KB πŸ‘ 1 views

## Communicated by William Sly Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans