Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II,
MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many …

In 1964, Christian de Duve first suggested that enzyme replacement might prove therapeutic
for lysosomal storage diseases (LSDs). Early efforts identified the major obstacles, including …

The aim of this study was to obtain data about the epidemiology of the different types of
mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from …

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

Keratoconus (KC) is a corneal thinning disorder that leads to loss of visual acuity through
ectasia, opacity, and irregular astigmatism. It is one of the leading indicators for corneal …

Nucleic acid drugs have the advantages of rich target selection, simple in design, good and
enduring effect. They have been demonstrated to have irreplaceable superiority in brain …

Proteoglycans (PGs) are a diverse family of proteins that consist of one or more
glycosaminoglycan (GAG) chains, covalently linked to a core protein. PGs are major …

Corneal stroma is an avascular connective tissue characterized by layers of highly
organized parallel collagen fibrils, mono-disperse in diameter with uniform local interfibrillar …

Mucopolysaccharidosis type I (MPS I) is a severe disease due to deficiency of the lysosomal
hydrolase α-L-iduronidase (IDUA) and the subsequent accumulation of the …

The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific
enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although …