The neuronal ceroid lipofuscinoses constitute one of many groups of rare childhood
diseases for which disease-modifying treatments are nonexistent. Disease-specific barriers …

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

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 …

The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage
disorders, caused by mutations in lysosomal enzymes involved in the degradation of …

Importance Pediatric palliative care treats patients with a wide variety of advanced illness
conditions, often with substantial levels of pain and other symptoms. Clinical and research …

Neurological dysfunction represents a significant clinical component of many of the
mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent …

Abstract Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal
storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism …

Background Rare and severe neurological disorders in childhood not only heavily affect the
life perspective of the patients, but also their caregivers and families. The aim of this study …

Background Childhood dementias are a group of rare and ultra-rare paediatric conditions
clinically characterised by enduring global decline in central nervous system function …

Abstract Introduction Sanfilippo syndrome (MPS III) is a rare, degenerative condition
characterized by symptoms impacting cognitive ability, mobility, behavior, and quality of life …