Stem cell transplantation is not appropriate first-line treatment for attenuated phenotypes of
mucopolysaccharidosis type I (MPS I). In three patients with attenuated MPSA I treated by …

Mucopolysaccharidosis type VII (MPSVII) is an inborn error of metabolism caused by a
deficiency in the lysosomal enzyme B-glucuronidase (GUSB). As such, MPSVII is one of a …

Abstract Background Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder in
which the deficiency of the lysosomal enzyme N‐acetyl‐α‐glucosaminidase (NAGLU) …

Abstract Mucopolysaccharidosis type III (MPS III), or Sanfilippo disease, is a
neurodegenerative lysosomal storage disease (LSD) caused by defective lysosomal …

Lysosomal storage disorders (LSDs) are a group of about 50 genetic metabolic disorders,
mainly affecting children, sharing the inability to degrade specific endolysosomal substrates …

Currently, there are over a dozen thousand of genetic diseases known in the world, about
7,000 belonging to diseases caused by defects in single genes (monogenic diseases) …

Mucopolysaccharidosis (MPS) consists of a group of 11 enzymatic defects which result in
accumulation of undegraded glycosaminoglycans (GAG) in lysosomes. MPS is a severe …

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare, progressive,
multisystemic lysosomal storage disease caused by de? ciency of iduronate 2 sulfatase, an …

Mucopolysaccharidosis type III (Sanfilippo) is comprised of four phenotypically similar
lysosomal storage disorders (MPS IIIA-D) caused by the deficiency of enzymes that …