Bone metabolism in patients with mucopolysaccharidosis type II
نویسندگان
چکیده
منابع مشابه
A clinical study of 77 patients with mucopolysaccharidosis type II.
AIM This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients. RESULTS Mean birth weight was 3360 g, median...
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INTRODUCTION Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability. In our country, the specific diagnosis and enzyme replacement therapy (ERT)...
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Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare, inherited disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. As a result of this deficiency, glycosaminoglycans accumulate in lysosomes in many tissues, leading to progressive multisystemic disease. The cardiopulmonary and neurological problems associated with MPS II have received considerable attenti...
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ژورنال
عنوان ژورنال: Reumatologia/Rheumatology
سال: 2014
ISSN: 0034-6233
DOI: 10.5114/reum.2014.47228