Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study

2010 ◽  
Vol 77 (5) ◽  
pp. 492-498 ◽  
Author(s):  
JJ McGill ◽  
AC Inwood ◽  
DJ Coman ◽  
ML Lipke ◽  
D de Lore ◽  
...  
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Chester B Whitley ◽  
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2010 ◽  
Vol 33 (S3) ◽  
pp. 421-427 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Ming-Ren Chen ◽  
Chih-Kuang Chuang ◽  
Chih-Ping Chen ◽  
Dar-Shong Lin ◽  
...  

2017 ◽  
Vol 173 (11) ◽  
pp. 2954-2967 ◽  
Author(s):  
Mustafa Kılıç ◽  
Ali Dursun ◽  
Turgay Coşkun ◽  
Ayşegül Tokatlı ◽  
Rıza K. Özgül ◽  
...  

2010 ◽  
Vol 36 (4) ◽  
pp. 705-705 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Ming-Ren Chen ◽  
Chih-Kuang Chuang ◽  
Chih-Ping Chen ◽  
Dar-Shong Lin ◽  
...  

Open Medicine ◽  
2012 ◽  
Vol 7 (2) ◽  
pp. 154-162
Author(s):  
Jolanta Marucha ◽  
Agnieszka Jurecka ◽  
Agnieszka Różdżyńska-Świątkowska ◽  
Anna Tylki-Szymańska

AbstractThe aim of this study was to describe the musculoskeletal manifestations of mucopolysaccharidosis VI and to assess the effectiveness of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B on the bone and joint involvement in a patient with a severe phenotype of the disease. Before the initiation of ERT, the patient presented with significant range of motion (ROM) limitations at multiple joints. Flexion contractures were noticeable in all joints. After 48 weeks of ERT, improvement in active and passive shoulder flexion, as well as passive elbow and wrist flexion, was noticed. ROM improvements were reflected in patient’s enhanced self-care.


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