Pabinafusp alfa (JR-141) is a novel enzyme drug that crosses the blood-brain barrier by
transcytosis via transferrin receptors. In order to establish its efficacy and safety, a …

Although the advent of enzyme replacement therapy (ERT) for mucopolysaccharidoses
(MPS) has paved the way for the treatment for these hereditary disorders, the blood brain …

Hunter syndrome (mucopolysaccharidosis II [MPS II]), a deficiency of iduronate-2-sulfatase
(IDS), causes an accumulation of glycosaminoglycans, giving rise to multiple systemic and …

Background Many rare diseases of childhood are life-threatening and chronically
debilitating, so living with a rare disease is an on-going challenge for patients and their …

In Hunter syndrome (mucopolysaccharidosis II [MPS-II]), systemic accumulation of
glycosaminoglycans (GAGs) due to a deficiency of iduronate-2-sulfatase (IDS), caused by …

Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the
absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of …

Purpose We aimed to identify the cause of disease in patients suffering from a distinctive,
atypical form of Usher syndrome. Methods Whole-exome and genome sequencing were …

Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive
lysosomal storage disease caused by a mutation in the IDS gene and characterized by …

Purpose Mucopolysaccharidosis increases morbidity and mortality by causing physical and
mental limitations in children. Parents experience various difficulties, mostly due to delayed …

Sixty years after its discovery, the lysosome is no longer considered as cell's waste bin but
as an organelle playing a central role in cell metabolism. Besides its well known association …