Allogenic hematopoietic stem cell transplantation (HSCT) has proven to be a viable
treatment option for a selected group of patients with mucopolysaccharidoses (MPS) …

The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of
intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses …

MPS disorders are associated with a wide spectrum of neurocognitive effects, from mild
problems with attention and executive functions to progressive and degenerative …

Hematopoietic stem cell transplantation (HSCT) has been established as an effective
therapy for selected inborn errors of metabolism. The success of HSCT in metabolic disease …

Abstract Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal
storage disorder, caused by a deficiency in one of the four enzymes involved in the …

Heparan sulfate proteoglycans (HSPGs) are complex carbohydrate-modified proteins
ubiquitously expressed on cell surfaces, extracellular matrix and basement membrane of …

Mucopolysaccharidoses (MPS) are inborn errors of metabolism produced by a deficiency of
one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). Although …

Rare monogenic disorders such as lysosomal diseases have been at the forefront in the
development of novel treatments where therapeutic options are either limited or unavailable …

Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by
mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan …

The aim of this study was to evaluate the efficacy of high dose genistein aglycone in
Sanfilippo syndrome (mucopolysaccharidosis type III). High doses of genistein aglycone …