The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …

Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative
lysosomal storage disorders that is characterized by childhood dementia. The clinical …

Background Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B
syndrome) is a lysosomal storage disease resulting in progressive deterioration of cognitive …

The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific
enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although …

Mucopolysaccharidoses (MPS) are estimated to affect1 in 25,000 live births although
specific rates vary between the ethnic origin and country. MPS are a group of lysosomal …

Background High-throughput re-sequencing is rapidly becoming the method of choice for
studies of neutral and adaptive processes in natural populations across taxa. As re …

Mukopolysaccharidosen (MPS) sind erbliche, progrediente Speicherkrankheiten,
hervorgerufen durch die intrazelluläre Anhäufung von Glykosaminoglykanen (sauren …

Background The phenotypic spectrum of many rare disorders is much wider than previously
considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal …

Late-onset painful sensory neuropathies are usually acquired conditions associated with
common diseases. Adult presentations of known hereditary forms are often accompanied by …

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) …