Mucopolysaccharidoses (MPS) are a group of genetic disorders belonging to lysosomal
storage diseases. They are caused by genetic defects leading to a lack or severe deficiency …

Enzyme replacement therapy is currently available for three of the mucopolysaccharidoses
(MPSs) but has limited effects on the skeletal lesions. We investigated the involvement of the …

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disease
characterized by severe neurologic and somatic disease caused by deficiency of iduronate …

Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group
of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes …

Sanfilippo disease (MPS IIIA) is an autosomal recessive lysosomal storage disorder
resulting from sulfamidase deficiency, which is characterized by severe neurological …

Lysosomes were originally described in the early 1950s by de Duve who was also the first to
recognize the importance of these organelles in human disease. We know now that …

Mucopolysaccharidosis type VII (MPS7) is a lysosomal storage disorder (LSD) resulting from
mutations in the β-glucuronidase gene, leading to multiorgan dysfunction and fetal demise …

Mucopolysaccharidoses (MPS), a group of lysosomal storage diseases (LSD), are inherited
disorders caused by mutations in genes coding for enzymes involved in the degradation of …

Morquio disease, also called mucopolysaccharidosis IV (MPS IV), belongs to the group of
lysosomal storage diseases (LSD). Due to deficiencies in the activities of galactose-6-sulfate …

ABSTRACT Mucopolysaccharidosis VII (MPS VII) is a recessively inherited lysosomal
storage disorder caused by β-glucuronidase enzyme deficiency. The disease is …