Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis
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چکیده
منابع مشابه
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Glycosaminoglycans and mucopolysaccharidosis type III.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2018
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2018.04.011