eMedicine - Mucopolysaccharidosis Type VII : Article by Donald Nash, PhD †
| Title: | eMedicine - Mucopolysaccharidosis Type VII : Article by Donald Nash, PhD † |
| URL: | http://www.emedicine.com/ped/topic858.htm |
| Description: | Mucopolysaccharidosis Type VII - The mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders that are caused by a deficiency of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs) (mucopolysaccharides). MPSs show extensive genetic heterogeneity, both among and within loci. Seven types of MPS exist. MPS VII, or Sly disease, results from the deficiency of b-glucuronidase. Sly et al characterized a patient with skeletal features similar to those observed in other patients with MPS. Historically, ... mucopolysaccharidosis type vii, beta-glucuronidase deficiency, b-d-glucuronidase, sly syndrome, sly disease, lysosomal storage disorder, lysosomal storage dysfunction, mps vii, |
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