نتایج جستجو برای: mucopolysaccharidosis
تعداد نتایج: 2370 فیلتر نتایج به سال:
UNLABELLED ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmenta...
PURPOSE To describe knee alignment in children of different ages with severe mucopolysaccharidosis (MPS) I and II and the outcome of treatment with guided growth in a patient subgroup. METHODS This is a retrospective observational study of 58 knees in 29 children with severe MPS I and II. Long-leg standing radiographs were evaluated to determine mechanical axis deviation, mechanical lateral d...
BACKGROUND Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and to determine the load likely to fall on health-care systems, it is necessary to understand the prevalence and natural progression of the disease especially with regard to life-e...
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