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
β¦ LIBER β¦
Natural history of Polish patients with mucopolysaccharidosis type VI
β 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.
π SIMILAR VOLUMES
Natural history of Polish patients with
β
Jurecka, Agnieszka ;Rozdzynska, Agnieszka ;Marucha, Jolanta ;Czartoryska, Barbar
π
Article
π
2011
π
Walter de Gruyter GmbH
π
English
β 876 KB
Psychosocial perspectives of a patient w
β
Ho, Yun-Chi; Weng, Chun-Ying; Chou, Wei-Chih; Lin, Shuan-Pei; Chu, Shao-Yin
π
Article
π
2013
π
Tzu Chi Medical Center
π
Chinese
β 596 KB
Sleep abnormalities in untreated patient
β
Γngela John; Simone Fagondes; Ida Schwartz; Ana CecΓlia Azevedo; PatrΓcia Barrio
π
Article
π
2011
π
John Wiley and Sons
π
English
β 109 KB
π 1 views
259 SLEEP EVALUATION IN PATIENTS WITH MU
β
A. John; S. Fagondes; I. Schwartz; A.C. Azevedo; P. Barrios; P. Dalcin; S.M. Bar
π
Article
π
2009
π
Elsevier Science
π
English
β 61 KB
Oral manifestations of 17 patients affec
β
Kantaputra, Piranit Nik; Kayserili, HΓΌlya; GΓΌven, Yeliz; Kantaputra, Warissara;
π
Article
π
2013
π
Springer
π
English
β 735 KB
Mutational analysis of 105 mucopolysacch
β
Litsa Karageorgos; Doug A. Brooks; Anthony Pollard; Elizabeth L. Melville; Leann
π
Article
π
2007
π
John Wiley and Sons
π
English
β 294 KB
π 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