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Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

✍ Scribed by ACMM Azevedo; IV Schwartz; L Kalakun; S Brustolin; MG Burin; APC Beheregaray; S Leistner; C Giugliani; M Rosa; P Barrios; D Marinho; P Esteves; E Valadares; R Boy; D Horovitz; P Mabe; LCS Da Silva; ICN De Souza; M Ribeiro; AM Martins; D Palhares; CA Kim; R Giugliani


Book ID
110887906
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
160 KB
Volume
66
Category
Article
ISSN
0009-9163

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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