Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by
mutations in genes coding for proteins associated with the lysosomal function. Despite the …

Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and devastating childhood-
onset lysosomal storage disease caused by complete loss of function of the lysosomal …

Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders caused by
deficiency in enzymes involved in degradation of glycosaminoglycans (GAGs), are …

Here, we present the molecular diagnosis of a patient with a general clinical suspicion of
Mucopolysaccharidosis, highlighting the different tools used to perform its molecular …

Mucopolysaccharidoses (MPSs) are lysosomal disorders with neurological involvement for
which no cure exists. Here, we show that recombinant NK1 fragment of hepatocyte growth …

Abstract Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive
lysosomal storage disorder caused by various variants in the IDS gene. It is known that …

Although mucopolysaccharidoses (MPS), inherited metabolic diseases from the group of
lysosomal storage diseases (LSD), are monogenic disorders, recent studies indicated that …

Abstract Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder
resulting from pathogenic variants in the α‐L‐iduronidase (IDUA) gene. Clinical phenotypes …

Lysosomal storage disorders (LSDs) are a group of rare genetic diseases, generally caused
by a deficiency of specific lysosomal enzymes, which results in abnormal accumulation of …

Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the
enzyme alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the …