The glymphatic system is a recently discovered network unique to the central nervous
system that allows for dynamic exchange of interstitial fluid (ISF) and cerebrospinal fluid …

Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders
primarily affecting the white matter of central nervous system. These conditions are often …

Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an
autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N …

Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in
humans (or 14 diseases if considering one MPS type described to date only in mice) in …

Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric
population. It is defined as an abnormally large head with an occipitofrontal circumference …

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results
in defective sulfatase post-translational modification. Sulfatases in the body are activated by …

Background: Case reports are usually excluded from systematic reviews. Patients with rare
diseases are more dependent on novel individualized strategies than patients with common …

Background We retrospectively reviewed the neuroimaging findings of patients with Cowden
syndrome and determined their frequency in a single cohort. Methods Electronic medical …

The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic
disorders, each associated with a deficiency in one of the enzymes involved in …

Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by
dysfunction of the lysosomal system, with subsequent progressive accumulation of …