Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles
Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Abstract Maroteaux–Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage
disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical …

Cochlear implantation is currently the treatment of choice for children with severe to
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …

Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features
include coarse facial features, growth retardation, recurrent upper respiratory infections …

Next‐generation sequencing (NGS) technologies have greatly impacted on every field of
molecular research mainly because they reduce costs and increase throughput of DNA …

Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the
lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as …

Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50
genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance …

UDP-GlcNAc: lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized
lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for …