Mucopolysaccharidosis type IIIA (MPS-IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of heparan-N-sulfamidase (NS; EC 3.10.1.1), resulting in defective degradation and subsequent storage of heparan sulfate and leading to a clinical phenotype known as Sanfilippo syndrome. A sensitive and specific monoclonal/polyclonal-based immunoquantification assay has enabled the determination of NS protein, down to approximately 3 pg NS protein, in cultured fibroblasts from control and MPS-IIIA patients. Cultured skin fibroblasts from 15 normal controls contained 11.9 to 105 ng of NS protein/mg extracted cell protein, whereas NS protein ranged from "none detected" to 11 ng/mg in fibroblasts from 35 MPS-IIIA patients. A...
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of t...
Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal rec...
Copyright © 2006 Elsevier B.V. All rights reserved.BackgroundMucopolysaccharidosis type IVA (MPS IVA...
Mucopolysaccharidosis IIIA (MPS-IIIA) is an autosomal recessive lysosomal storage disorder caused by...
textabstractBackground: Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder in whi...
Mucopolysaccharidosis type IIIB (MPS-IIB) is a lysosomal storage disorder characterised by the defec...
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in ...
Mucopolysaccharidosis type III, also known as MPS III or Sanfilippo syndrome, is a lysosomal storage...
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, ca...
AbstractMucopolysaccharidosis type IIIB (MPS-IIB) is a lysosomal storage disorder characterised by t...
Background: With ongoing efforts to develop improved treatments for Sanfilippo Syndrome Type A (MPS-...
Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a lysosomal storage disease tha...
Mucopolysaccharidosis I is a lysosomal storage disorder caused by a deficiency of the lysosomal hydr...
Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an ina...
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of t...
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of t...
Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal rec...
Copyright © 2006 Elsevier B.V. All rights reserved.BackgroundMucopolysaccharidosis type IVA (MPS IVA...
Mucopolysaccharidosis IIIA (MPS-IIIA) is an autosomal recessive lysosomal storage disorder caused by...
textabstractBackground: Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder in whi...
Mucopolysaccharidosis type IIIB (MPS-IIB) is a lysosomal storage disorder characterised by the defec...
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in ...
Mucopolysaccharidosis type III, also known as MPS III or Sanfilippo syndrome, is a lysosomal storage...
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, ca...
AbstractMucopolysaccharidosis type IIIB (MPS-IIB) is a lysosomal storage disorder characterised by t...
Background: With ongoing efforts to develop improved treatments for Sanfilippo Syndrome Type A (MPS-...
Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a lysosomal storage disease tha...
Mucopolysaccharidosis I is a lysosomal storage disorder caused by a deficiency of the lysosomal hydr...
Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an ina...
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of t...
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of t...
Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal rec...
Copyright © 2006 Elsevier B.V. All rights reserved.BackgroundMucopolysaccharidosis type IVA (MPS IVA...