نتایج جستجو برای: mucopolysaccharidosis type
تعداد نتایج: 1343233 فیلتر نتایج به سال:
The early and accurate diagnosis of the mucopolysaccharidoses remains a problem for the clinical laboratory. Reported here is the systematic compari son of the ability of three common glycosaminoglycanuria screening proce dure (the Berry spot test, the AMES MPS® spot test, and the gross acid albumin turbidity test) to detect the mucopolysaccharidoses. These tests were run on random urine samp...
Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe a spontaneous mouse mutant that replicates many of the features found in MPS III A in children. Brain sections reve...
Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior longitudinal ligament hypertrophy, or dural thickening. SCC is expected to occur in the natural history of the disease, regardless of enzyme replacement therapy (ERT), as intravenous enzyme does not cross the blood-brain barri...
More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler syndrome) have been treated with hematopoietic cell transplantation (HCT) throughout the world since the introduction of transplantation as therapy almost 30 years ago. More recently, the availability of recombinant alpha-L-iduronidase (IDUA) has resulted in the widespread treatment of less severe forms of MPS I with enzy...
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