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

The Neuronal Ceroid Lipofuscinoses (NCLs) are lysosomal storage diseases (LSDs)
affecting the central nervous system (CNS), with generally with recessive inheritance. They …

2-Hydroxypropyl-β-cyclodextrin (HPβCD) is a Food and Drug Administration-approved
excipient used to improve the stability and bioavailability of drugs. Despite its wide use as a …

Cerium oxide nanoparticles (nanoceria) are widely used in a variety of industrial
applications including UV filters and catalysts. The expanding commercial scale production …

Objective: To explore the onset and progression of cardiac involvement in juvenile neuronal
ceroid lipofuscinosis (JNCL). Methods: The study population comprised an unselected …

The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain
diseases of children and young adults, characterized by a decline of mental and other …

Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid
lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American …

Phosphomannomutase (PMM2, Mannose-6-P→ Mannose-1-P) deficiency is the most
frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for …

In regenerative medicine, stem cells are currently considered ideal candidates for the
treatment of diseases and injuries of the nervous system, for which, at present, there are no …

Late-infantile neuronal ceroid lipofuscinosis (CLN2) is a hereditary neurological disorder
characterized by progressive retinal degeneration and vision loss, cognitive and motor …